Section 55

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Verma, D.; Dutta, V. 2007: Novel microstructure in spin coated polyaniline thin films. Journal of Physics. Condensed Matter: An Institute of Physics Journal 19(18): 186212
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Matsumura, N. 2011: Novel microsurgical precision grip and spring-handled instrument with a variable stabilizer. Microsurgery 31(7): 586-588
Arora, S.; Wang, X.I.; Keenan, S.M.; Andaya, C.; Zhang, Q.; Peng, Y.; Welsh, W.J. 2009: Novel microtubule polymerization inhibitor with potent antiproliferative and antitumor activity. Cancer Research 69(5): 1910-1915
Anchoori, R.K.; Kortenhorst, M.S.Q.; Hidalgo, M.; Sarkar, T.; Hallur, G.; Bai, R.; Diest, P.J.V.; Hamel, E.; Khan, S.R. 2008: Novel microtubule-interacting phenoxy pyridine and phenyl sulfanyl pyridine analogues for cancer therapy. Journal of Medicinal Chemistry 51(19): 5953-5957
Cheng, K.L.; Bradley, T.; Budman, D.R. 2008: Novel microtubule-targeting agents - the epothilones. Biologics: Targets and Therapy 2(4): 789-811
Nathwani, S.-M.; Butler, S.; Fayne, D.; McGovern, N.N.; Sarkadi, B.; Meegan, M.J.; Lloyd, D.G.; Campiani, G.; Lawler, M.; Williams, D.C.; Zisterer, D.M. 2010: Novel microtubule-targeting agents, pyrrolo-1,5-benzoxazepines, induce apoptosis in multi-drug-resistant cancer cells. Cancer ChemoTherapy and Pharmacology 66(3): 585-596
Nathwani, S.-M.; Cloonan, S.M.; Stronach, M.; Campiani, G.; Lawler, M.; Williams, D.C.; Zisterer, D.M. 2010: Novel microtubule-targeting agents, pyrrolo-1,5-benzoxazepines, induce cell cycle arrest and apoptosis in prostate cancer cells. Oncology Reports 24(6): 1499-1507
Swaminathan, V.; Deheri, P.Kumar.; Bhame, S.Dnyaneswar.; Ramanujan, R.Vijayaraghavan. 2013: Novel microwave assisted chemical synthesis of Nd₂Fe₁₄B hard magnetic nanoparticles. Nanoscale 5(7): 2718-2725
Synnott, D.W.; Seery, M.K.; Hinder, S.J.; Colreavy, J.; Pillai, S.C. 2013: Novel microwave assisted synthesis of ZnS nanomaterials. Nanotechnology 24(4): 045704
Zhuang, L.; Khan, M.R.; Beeker, W.; Leinse, A.; Heideman, R.é; Roeloffzen, C. 2012: Novel microwave photonic fractional Hilbert transformer using a ring resonator-based optical all-pass filter. Optics Express 20(24): 26499-26510
Zhou, H.; Bhaduri, S. 2012: Novel microwave synthesis of amorphous calcium phosphate nanospheres. Journal of Biomedical Materials Research. Part B Applied Biomaterials 100(4): 1142-1150
Mi, C.; Tian, Z.; Cao, C.; Wang, Z.; Mao, C.; Xu, S. 2011: Novel microwave-assisted solvothermal synthesis of NaYF4:Yb,Er upconversion nanoparticles and their application in cancer cell imaging. Langmuir: the Acs Journal of Surfaces and Colloids 27(23): 14632-14637
Nikolic, L.; Ristic, I.; Adnadjevic, B.; Nikolic, V.; Jovanovic, J.; Stankovic, M. 2010: Novel microwave-assisted synthesis of poly(D,L-lactide): the influence of monomer/initiator molar ratio on the product properties. Sensors 10(5): 5063-5073
Vázquez-Tato, M.Pilar.; Mena-Menéndez, A.; Feás, Xús.; Seijas, J.A. 2014: Novel microwave-assisted synthesis of the immunomodulator organotellurium compound ammonium trichloro(dioxoethylene-O,O')tellurate (AS101). International Journal of Molecular Sciences 15(2): 3287-3298
Habibzadeh, S.; Mortazavi, Y.; Khodadadi, A.Ali. 2010: Novel microwave-induced combustion synthesis of SnO2 nanoparticles for selective sensing of CO using tin chloride. Journal of Nanoscience and Nanotechnology 10(9): 6003-6008
Darwish, I.A.; Alqarni, M.A.; Wani, T.A. 2013: Novel microwell assay with high throughput and minimum consumption for organic solvents in the charge transfer-based spectrophotometric determination of clarithromycin in pharmaceutical formulations. Chemistry Central Journal 7(1): 172
Wani, T.A.; Khalil, N.Y.; Abdel-Rahman, H.M.; Darwish, I.A. 2011: Novel microwell-based spectrophotometric assay for determination of atorvastatin calcium in its pharmaceutical formulations. Chemistry Central Journal 5(1): 57
Kaneko, K.; Ikeda, T.; Nagai, M.; Hori, S.; Umatani, C.; Tadano, H.; Ugajin, A.; Nakaoka, T.; Paul, R.K.; Fujiyuki, T.; Shirai, K.; Kunieda, T.; Takeuchi, H.; Kubo, T. 2013: Novel middle-type Kenyon cells in the honeybee brain revealed by area-preferential gene expression analysis. Plos one 8(8): E71732
Low, T.; Guinea, F.; Yan, H.; Xia, F.; Avouris, P. 2014: Novel midinfrared plasmonic properties of bilayer graphene. Physical Review Letters 112(11): 116801
Charles, A. 2012: Novel migraine mechanisms as targets for therapy. Rinsho Shinkeigaku 52(11): 900
Edvinsson, L. 2007: Novel migraine therapy with calcitonin gene-regulated peptide receptor antagonists. Expert Opinion on Therapeutic Targets 11(9): 1179-1188
Kawakami, M.; Umeda, M.; Nakagata, N.; Takeo, T.; Yamamura, K.-I. 2011: Novel migrating mouse neural crest cell assay system utilizing P0-Cre/EGFP fluorescent time-lapse imaging. Bmc Developmental Biology 11: 68
Stefanov, I.; Fievez, V. 2009: Novel milk fat extraction method--a faster, economical and health friendlier approach. Communications in Agricultural and Applied Biological Sciences 74(4): 139-142
Charkoftaki, G.; Kytariolos, J.; Macheras, P. 2010: Novel milk-based oral formulations: proof of concept. International Journal of Pharmaceutics 390(2): 150-159
Chesnick, I.E.; Fowler, C.B.; Mason, J.T.; Potter, K. 2011: Novel mineral contrast agent for magnetic resonance studies of bone implants grown on a chick chorioallantoic membrane. Magnetic Resonance Imaging 29(9): 1244-1254
Yang, Y.; Tang, H.; Köwitsch, A.; Mäder, K.; Hause, G.; Ulrich, J.; Groth, T. 2014: Novel mineralized heparin-gelatin nanoparticles for potential application in tissue engineering of bone. Journal of Materials Science. Materials in Medicine 25(3): 669-680
Zhang, Y.; Duan, D. 2012: Novel mini-dystrophin gene dual adeno-associated virus vectors restore neuronal nitric oxide synthase expression at the sarcolemma. Human Gene Therapy 23(1): 98-103
Nagao, D.; Ohta, T.; Ishii, H.; Imhof, A.; Konno, M. 2012: Novel mini-reactor of silicone oil droplets for synthesis of morphology-controlled polymer particles. Langmuir: the Acs Journal of Surfaces and Colloids 28(51): 17642-17646
Bakhoum, E.G. 2008: Novel miniature electrostatic generator. Review of Scientific Instruments 79(1): 015103
Han, Y.-l.; Liang, Z.; Yao, T.-m.; Sun, J.-y.; Liang, M.; Huo, Y.; Wang, G.; Wang, X.-z.; Liang, Y.-c.; Meng, W.-h. 2012: Novel miniature mobile cardiac catheterization laboratory for critical cardiovascular disease following natural disasters: a feasibility study. Chinese Medical Journal 125(6): 995-999
Almeer, S.H.M.A.; Zogby, I.A.; Hassan, S.S.M. 2014: Novel miniaturized sensors for potentiometric batch and flow-injection analysis (FIA) of perchlorate in fireworks and propellants. Talanta 129: 191-197
Huang, M.; Chen, Z.; Hu, S.; Jia, F.; Li, Z.; Hoyt, G.; Robbins, R.C.; Kay, M.A.; Wu, J.C. 2009: Novel minicircle vector for gene therapy in murine myocardial infarction. Circulation 120(11): S230-S237
Allamaneni, S.; Bertocchi, M.; Aboian, E.; Nandipati, K.; Richards, N.; Mandava, N. 2009: Novel minimally invasive approach in the management of body packers. American Surgeon 75(12): 1257-1258
Hsia, T.-Y.; Bradley, S.M.; LaPage, M.J.; Whelan, S.; Saul, J.P.; Ringewald, J.M.; Reed, J.H. 2009: Novel minimally invasive, intrapericardial implantable cardioverter defibrillator coil system: a useful approach to arrhythmia therapy in children. Annals of Thoracic Surgery 87(4): 1234-1238; Discussion: 1238-1239
Miller, S.A.; Burnett, J.R.; Leonis, M.A.; McKnight, C.J.; van Bockxmeer, F.M.; Hooper, A.J. 2014: Novel missense MTTP gene mutations causing abetalipoproteinemia. Biochimica et Biophysica Acta 1842(10): 1548-1554
Waibel, S.; Neumann, M.; Rabe, M.; Meyer, T.; Ludolph, A.C. 2010: Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology 75(9): 815-817
Nicita, F.; Tarani, L.; Spalice, A.; Grasso, M.; Papetti, L.; Cecconi, M.; Biasi, C.Di.; Ursitti, F.; Iannetti, P. 2011: Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome. Journal of Genetics 90(1): 147-150
Wypasek, E.; Potaczek, D.P.; Alhenc-Gelas, M.; Undas, A. 2014: Novel missense mutation C106R in the PROC gene associated with type i protein C deficiency in a young Polish man with high-risk pulmonary embolism. Polskie Archiwum Medycyny Wewnetrznej 124(1-2): 75-76
Cabrera, N.; Casaña, P.; Cid, A.R.; Haya, S.; Moret, A.és.; Aznar, J.A. 2009: Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA. Annals of Hematology 88(3): 245-247
Ferrari, R.; Kapogiannis, D.; Huey, E.D.; Grafman, J.; Hardy, J.; Momeni, P. 2010: Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia. Alzheimer Disease and Associated Disorders 24(4): 397-401
He, F.; Wang, X.; Cai, X.; Peng, H.; Zhang, L.; Zhu, T.; Xia, K.; Pan, Q.; Hu, Z. 2015: Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family. Journal of Dermatology 42(1): 95-96
Kuwada, M.; Chihara, Y.; Lou, Y.; Torimoto, K.; Kagebayashi, Y.; Tamura, K.; Shuin, T.; Fujimoto, K.; Kuniyasu, H.; Samma, S. 2014: Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas. Bmc Research Notes 7: 203
Girardelli, M.; Vuch, J.; Tommasini, A.; Crovella, S.; Bianco, A.Monica. 2014: Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?. International Journal of Molecular Sciences 15(3): 3834-3841
Yoshihara, N.; Nakano, H.; Sawamura, D.; Ikeda, S. 2014: Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype. Journal of Dermatology 41(10): 939-940
Wang, J.-F.; Lu, W.-S.; Sun, L.-D.; Lv, Y.-M.; Zhou, F.-S.; Fang, Q.-Y.; Tang, H.-Y.; Cui, Y.; Yang, S.; Zhang, X.-J. 2009: Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. Journal of the European Academy of Dermatology and Venereology: Jeadv 23(6): 723-724
Kemter, E.; Rathkolb, B.; Rozman, J.; Hans, W.; Schrewe, A.; Landbrecht, C.; Klaften, M.; Ivandic, B.; Fuchs, H.; Gailus-Durner, V.ér.; Klingenspor, M.; de Angelis, M.H.é; Wolf, E.; Wanke, R.; Aigner, B. 2009: Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism. American Journal of Physiology. Renal Physiology 297(5): F1391-F1398
Stober, A.; Aleo, A.; Kuhl, V.; Bornemann, A.; Walter, M.C.; Lochmüller, H.; Lindner, A.; Krause, S. 2010: Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. Neuromuscular Disorders: Nmd 20(5): 335-336
Tammaro, A.; Di Martino, A.; Bracco, A.; Cozzolino, S.; Savoia, G.; Andria, B.; Cannavo, A.; Spagnuolo, M.; Piluso, G.; Aurino, S.; Nigro, V. 2011: Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clinical Genetics 79(5): 438-447
Liang, J.; Song, G.; Li, Q.; Bian, Z. 2012: Novel missense mutations in PAX9 causing oligodontia. Archives of Oral Biology 57(6): 784-789
Gehmlich, K.; Asimaki, A.; Cahill, T.J.; Ehler, E.; Syrris, P.; Zachara, E.; Re, F.; Avella, A.; Monserrat, L.; Saffitz, J.E.; McKenna, W.J. 2010: Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?. Heart Rhythm 7(10): 1446-1453
Naz, G.; Khan, B.; Ali, G.; Azeem, Z.; Wali, A.; Ansar, M.; Ahmad, W. 2009: Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). Journal of Dermatological Science 54(1): 12-16
Wong, S.; Liu, H.; Bai, B.; Chang, H.; Zhao, H.; Wang, Y.; Han, D.; Feng, H. 2014: Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia. Archives of Oral Biology 59(3): 349-353
Van Steensel, M.A.M.; Damstra, R.J.; Heitink, M.V.; Bladergroen, R.S.; Veraart, J.; Steijlen, P.M.; van Geel, M. 2009: Novel missense mutations in the FOXC2 gene alter transcriptional activity. Human Mutation 30(12): E1002-E1009
Budny, B.; Badura-Stronka, M.; Materna-Kiryluk, A.; Tzschach, A.; Raynaud, M.; Latos-Bielenska, A.; Ropers, H.H. 2010: Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. Clinical Genetics 77(6): 541-551
Lu, C.; Liu, J.; Liu, F.; Liu, Y.; Ma, D.; Zhang, X. 2014: Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. Journal of Dermatological Science 76(3): 255-258
Treepongkaruna, S.; Chongviriyaphan, N.; Suthutvoravut, U.; Charoenpipop, D.; Choubtum, L.; Wattanasirichaigoon, D. 2009: Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease. Journal of Pediatric Gastroenterology and Nutrition 48(3): 370-373
Zhang, C.; Zhu, Y.; Huang, F.; Jiang, G.; Chang, J.; Li, R. 2013: Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies. Clinical Genetics 83(6): 545-552
Cerami, C.; Marcone, A.; Galimberti, D.; Villa, C.; Fenoglio, C.; Scarpini, E.; Cappa, S.F. 2013: Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia. Journal of Alzheimer's Disease: Jad 36(3): 415-420
Conca, P.; Pileggi, S.; Simonelli, S.; Boer, E.; Boscutti, G.; Magnolo, L.; Tarugi, P.; Penco, S.; Franceschini, G.; Calabresi, L.; Gomaraschi, M. 2012: Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. Journal of Clinical Lipidology 6(3): 244-250
Zhang, W.; Shen, L.; Deng, Z.; Ding, Y.; Mo, X.; Xu, Z.; Gao, Q.; Yi, L. 2014: Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4. Plos one 9(7): E102379
Huehne, K.; Zweier, C.; Raab, K.; Odent, S.; Bonnaure-Mallet, M.; Sixou, J.-L.; Landrieu, P.; Goizet, C.; Sarlangue, J.; Baumann, M.; Eggermann, T.; Rauch, A.; Ruppert, S.; Stettner, G.M.; Rautenstrauss, B. 2008: Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. Neuromuscular Disorders: Nmd 18(2): 159-166
Vizcaíno, C.; Mansilla, S.; Núñez, L.-E.; Méndez, C.; Salas, J.é A.; Morís, F.; Portugal, J.é 2012: Novel mithramycins abrogate the involvement of protein factors in the transcription of cell cycle control genes. Biochemical Pharmacology 84(9): 1133-1142
Lee, H.-y.; Kaneki, M.; Andreas, J.; Tompkins, R.G.; Martyn, J.A.J. 2011: Novel mitochondria-targeted antioxidant peptide ameliorates burn-induced apoptosis and endoplasmic reticulum stress in the skeletal muscle of mice. Shock 36(6): 580-585
Demianenko, I.A.; Vasilieva, T.V.; Domnina, L.V.; Dugina, V.B.; Egorov, M.V.; Ivanova, O.Y.; Ilinskaya, O.P.; Pletjushkina, O.Y.; Popova, E.N.; Sakharov, I.Y.; Fedorov, A.V.; Chernyak, B.V. 2010: Novel mitochondria-targeted antioxidants, "Skulachev-ion" derivatives, accelerate dermal wound healing in animals. BIOCHEMISTRY. Biokhimiia 75(3): 274-280
Ji, K.; Zheng, J.; Sun, B.; Liu, F.; Shan, J.; Li, D.; Luo, Y-Bei.; Zhao, Y.; Yan, C. 2014: Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome. Neuromolecular Medicine 16(1): 119-126
Wei, Y.-L.; Yu, C.-A.; Yang, P.; Li, A.-L.; Wen, J.-Y.; Zhao, S.-M.; Liu, H.-X.; Ke, Y.-N.; Campbell, W.; Zhang, Y.-G.; Li, X.-H.; Liao, W.-Q. 2009: Novel mitochondrial DNA mutations associated with Chinese familial hypertrophic cardiomyopathy. Clinical and Experimental Pharmacology and Physiology 36(9): 933-939
Morales, J.; Mogi, T.; Mineki, S.; Takashima, E.; Mineki, R.; Hirawake, H.; Sakamoto, K.; Omura, S.; Kita, K. 2009: Novel mitochondrial complex Ii isolated from Trypanosoma cruzi is composed of 12 peptides including a heterodimeric Ip subunit. Journal of Biological Chemistry 284(11): 7255-7263
Bowes, T.; Gupta, R.S. 2008: Novel mitochondrial extensions provide evidence for a link between microtubule-directed movement and mitochondrial fission. Biochemical and Biophysical Research Communications 376(1): 40-45
Grzybowska-Szatkowska, L.ła.; Slaska, B.; Rzymowska, J.; Brzozowska, A.; Floriańczyk, B.ła. 2014: Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer. Molecular Medicine Reports 10(4): 1772-1778
Johnson, F.; Kaplitt, M.G. 2009: Novel mitochondrial substrates of omi indicate a new regulatory role in neurodegenerative disorders. Plos one 4(9): E7100
Filosto, M.; Tonin, P.; Scarpelli, M.; Savio, C.; Greco, F.; Mancuso, M.; Vattemi, G.; Govoni, V.; Rizzuto, N.ò; Tupler, R.; Tomelleri, G. 2008: Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. Neuromuscular Disorders: Nmd 18(3): 204-209
Jackson, C.B.; Neuwirth, C.; Hahn, D.; Nuoffer, J.-M.; Frank, S.; Gallati, S.; Schaller, A.é 2014: Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. British Journal of Ophthalmology 98(10): 1453-1459
Martikainen, M.H.; Kytövuori, L.; Majamaa, K. 2014: Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction. Neuromuscular Disorders: Nmd 24(4): 360-364
Chapman, M.S.; Miner, J.N. 2011: Novel mitogen-activated protein kinase kinase inhibitors. Expert Opinion on Investigational Drugs 20(2): 209-220
Tiroch, K.; Vorpahl, M.; Seyfarth, M. 2014: Novel mitral clipping technique overcoming extreme atrial dilatation. Catheterization and Cardiovascular Interventions: Official Journal of the Society for Cardiac Angiography and Interventions 84(4): 606-609
Sobczak, M.; Cami-Kobeci, G.; Sałaga, M.; Husbands, S.M.; Fichna, J. 2014: Novel mixed NOP/MOP agonist BU08070 alleviates pain and inhibits gastrointestinal motility in mouse models mimicking diarrhea-predominant irritable bowel syndrome symptoms. European Journal of Pharmacology 736: 63-69
Berenguer, J.ús.R.; Fernández, J.; Lalinde, E.; Sánchez, S. 2012: Novel mixed anion [trans-Pt(C[triple bond, length as m-dash]CTol)(2)(CN)(2)](2-) as a building block of new luminescent Pt(II)-Tl(I) and Pt(II)-Pb(II) coordination polymers. Chemical Communications 2012
Subbaraj, P.; Ramu, A.; Raman, N.; Dharmaraja, J. 2014: Novel mixed ligand complexes of bioactive Schiff base (E)-4-(phenyl (phenylimino) methyl) benzene-1,3-diol and 2-aminophenol/2-aminobenzoic acid: synthesis, spectral characterization, antimicrobial and nuclease studies. Spectrochimica Acta. Part a Molecular and Biomolecular Spectroscopy 117: 65-71
Zhao, B.; Shang, X.; Xu, L.; Zhang, W.; Xiang, G. 2014: Novel mixed ligand di-n-butyltin(IV) complexes derived from acylpyrazolones and fluorinated benzoic acids: synthesis, characterization, cytotoxicity and the induction of apoptosis in Hela cancer cells. European Journal of Medicinal Chemistry 76: 87-97
Li, X.; Li, P.; Zhang, Y.; Zhou, Y.; Chen, X.; Huang, Y.; Liu, Y. 2010: Novel mixed polymeric micelles for enhancing delivery of anticancer drug and overcoming multidrug resistance in tumor cell lines simultaneously. Pharmaceutical Research 27(8): 1498-1511
Klaassen, C.é H.W.; de Valk, H.A.; Curfs-Breuker, I.M.; Meis, J.F. 2010: Novel mixed-format real-time PCR assay to detect mutations conferring resistance to triazoles in Aspergillus fumigatus and prevalence of multi-triazole resistance among clinical isolates in the Netherlands. Journal of Antimicrobial ChemoTherapy 65(5): 901-905
Gandin, V.; Porchia, M.; Tisato, F.; Zanella, A.; Severin, E.; Dolmella, A.; Marzano, C. 2013: Novel mixed-ligand copper(I) complexes: role of diimine ligands on cytotoxicity and genotoxicity. Journal of Medicinal Chemistry 56(18): 7416-7430
Sheng, H.; Xu, F.; Yao, Y.; Zhang, Y.; Shen, Q. 2007: Novel mixed-metal alkoxide clusters of lanthanide and sodium: synthesis and extremely active catalysts for the polymerization of epsilon-caprolactone and trimethylene carbonate. Inorganic Chemistry 46(19): 7722-7724
Nag, S.; Devaraj, A.; Srinivasan, R.; Williams, R.E.A.; Gupta, N.; Viswanathan, G.B.; Tiley, J.S.; Banerjee, S.; Srinivasan, S.G.; Fraser, H.L.; Banerjee, R. 2011: Novel mixed-mode phase transition involving a composition-dependent displacive component. Physical Review Letters 106(24): 245701
Dhal, P.; Nandy, M.; Sadhukhan, D.; Zangrando, E.; Pilet, G.; Gómez-García, C.J.; Mitra, S. 2013: Novel mixed-valence Cu compounds formed by Cu(II) dimers with double oximato bridges: in situ formation of anionic layer [Cu2(SCN)3]n(n-). Dalton Transactions 42(40): 14545-14555
Dimitrakopoulou, A.; Psycharis, V.; Raptopoulou, C.P.; Terzis, A.; Tangoulis, V.; Kessissoglou, D.P. 2008: Novel mixed-valence manganese cluster with two distinct Mn3(II/III/II) and Mn3(III/II/III) trinuclear units in a pseudocubane-like arrangement. Inorganic Chemistry 47(17): 7608-7614
Xiang, H.; Lan, Y.; Li, H.-Y.; Jiang, L.; Lu, T.-B.; Anson, C.E.; Powell, A.K. 2010: Novel mixed-valent Co(II)₂Co(III)₄Ln(III)₄ aggregates with ligands derived from tris-(hydroxymethyl)aminomethane (Tris). Dalton Transactions 39(20): 4737-4739
Otsuka, Y.; Yokoyama, H.; Nonogi, H. 2009: Novel mobile telemedicine system for real-time transmission of out-of-hospital ECG data for ST-elevation myocardial infarction. Catheterization and Cardiovascular Interventions: Official Journal of the Society for Cardiac Angiography and Interventions 74(6): 867-872
Koutsouris, D.; Giokas, K.; Iliopoulou, D. 2014: Novel mobile-health technologies. Studies in Health Technology and Informatics 202: 9-11
Talebian, L.; Wu, J.Y.; Fischer, D.A.; Hill, J.M.; Szczepiorkowski, Z.M.; Ernstoff, M.S.; Sentman, C.L.; Meehan, K.R. 2011: Novel mobilization strategies to enhance autologous immune effector cells in multiple myeloma. Frontiers in Bioscience 3(4): 1500-1508
Stratakos, G.; Emmanouil, P.; Gasparini, S. 2013: Novel modalities and agents in bronchoscopic lung volume reduction. Current Drug Targets 14(2): 253-261
Dimou, A.; Syrigos, K.; Saif, M.W. 2011: Novel modalities in the treatment of patients with KRAS-mutated colorectal cancer. Anti-Cancer Drugs 22(5): 384-391
Rafiq, K.; Hanscom, M.; Valerie, K.; Steinberg, S.F.; Sabri, A. 2008: Novel mode for neutrophil protease cathepsin G-mediated signaling: membrane shedding of epidermal growth factor is required for cardiomyocyte anoikis. Circulation Research 102(1): 32-41
Morales, D.J.; Monte, K.; Sun, L.; Struckhoff, J.J.; Agapov, E.; Holtzman, M.J.; Stappenbeck, T.S.; Lenschow, D.J. 2015: Novel mode of ISG15-mediated protection against influenza a virus and Sendai virus in mice. Journal of Virology 89(1): 337-349
Slavokhotova, A.A.; Naumann, T.A.; Price, N.P.J.; Rogozhin, E.A.; Andreev, Y.A.; Vassilevski, A.A.; Odintsova, T.I. 2014: Novel mode of action of plant defense peptides - hevein-like antimicrobial peptides from wheat inhibit fungal metalloproteases. Febs Journal 281(20): 4754-4764
Tokuraku, K.; Kurogi, R.; Toya, R.; Uyeda, T.Q.P. 2009: Novel mode of cooperative binding between myosin and Mg2+ -actin filaments in the presence of low concentrations of ATP. Journal of Molecular Biology 386(1): 149-162
Milbradt, J.; Webel, R.; Auerochs, S.; Sticht, H.; Marschall, M. 2010: Novel mode of phosphorylation-triggered reorganization of the nuclear lamina during nuclear egress of human cytomegalovirus. Journal of Biological Chemistry 285(18): 13979-13989
Danlybayeva, G.; Zhylkibayev, A.; Akhmadeyeva, Z.; Belan, E.; Ramazanov, Z. 2014: Clinical Experience with Chitosan Matrix and Cultured Fibroblasts for Burns. Central Asian Journal of Global Health 3(Suppl): 157
Kim, P.S.; Ko, J.; O'Shaughnessy, K.K.; Kuiken, T.A.; Dumanian, G.A. 2010: Novel model for end-neuroma formation in the amputated rabbit forelimb. Journal of Brachial Plexus and Peripheral Nerve Injury 5: 6
Mortazavi, P.N.; Goldsworthy, G.; Kirk, R.; Khan, N.A. 2009: Novel model for the in vivo study of central nervous system infection due to Acanthamoeba spp. (T4 genotype). Journal of Medical Microbiology 58(Part 4): 503-508
Bergantin, L.B.; Souza, C.áu.F.; Ferreira, R.M.; Smaili, S.S.; Jurkiewicz, N.H.; Caricati-Neto, A.; Jurkiewicz, A. 2013: Novel model for "calcium paradox" in sympathetic transmission of smooth muscles: role of cyclic AMP pathway. Cell Calcium 54(3): 202-212
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Tsukamoto, T.; Antonic, V.; El Hajj, I.I.; Stojadinovic, A.; Binion, D.G.; Izadjoo, M.J.; Yokota, H.; Pape, H.C.; Bauer, A.J. 2011: Novel model of peripheral tissue trauma-induced inflammation and gastrointestinal dysmotility. Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society 23(4): 379-386 E164
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Zhao, H.; Jin, G.; Cui, K.; Ren, D.; Liu, T.; Chen, P.; Wong, S.; Li, F.; Fan, Y.; Rodriguez, A.; Chang, J.; Wong, S.T.C. 2013: Novel modeling of cancer cell signaling pathways enables systematic drug repositioning for distinct breast cancer metastases. Cancer Research 73(20): 6149-6163
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El-Refaeey, A.-A.; Gibreel, A.; Fawzy, M. 2014: Novel modification of B-Lynch uterine compression sutures for management of atonic postpartum hemorrhage: VV uterine compression sutures. Journal of Obstetrics and Gynaecology Research 40(2): 387-391
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Sughimoto, K.; Aoki, M.; Naito, Y.; Fujiwara, T. 2009: Novel modification of total cavopulmonary connection for isolated hepatic vein. Annals of Thoracic Surgery 88(4): 1367-1370
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Rezvani, M.; Ebrahimzadeh, H.; Aliakbari, A.; Khalilzadeh, A.; Kasaeian, M.; Amini, M.M. 2014: Novel modified carbon nanotubes as a selective sorbent for preconcentration and determination of trace copper ions in fruit samples. Journal of Separation Science 37(18): 2559-2565
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El-Far, M.; Elmegeed, G.A.; Eskander, E.F.; Rady, H.M.; Tantawy, M.A. 2009: Novel modified steroid derivatives of androstanolone as chemotherapeutic anti-cancer agents. European Journal of Medicinal Chemistry 44(10): 3936-3946
Shan, Y.; Xu, J.; Cai, C.; Wang, S.; Zhang, H. 2014: Novel modified surgical treatment of auricular pseudocyst using plastic sheet compression. Otolaryngology--Head and Neck Surgery: Official Journal of American Academy of Otolaryngology-Head and Neck Surgery 151(6): 934-938
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Sobolev, A.S. 2009: Novel modular transporters delivering anticancer drugs and foreign DNA to the nuclei of target cancer cells. Journal of BUON: Official Journal of the Balkan Union of Oncology 14(Suppl 1): S33-S42
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Sangle, N.A.; Mao, R.; Shetty, S.; Schiffman, J.D.; Dechet, C.; Layfield, L.; Agarwal, N.; Liu, T. 2013: Novel molecular aberrations and pathologic findings in a tubulocystic variant of renal cell carcinoma. Indian Journal of Pathology and Microbiology 56(4): 428-433
Borkakoti, J.; Ahmed, G.; Hussain, S.A.; Rai, A.; Kar, P. 2014: Novel molecular alterations in the ORF 2 capsid gene of hepatitis e virus in patients with acute liver failure in North India. Archives of Virology 159(12): 3391-3394
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Brett, B.T.; Berquam-Vrieze, K.E.; Nannapaneni, K.; Huang, J.; Scheetz, T.E.; Dupuy, A.J. 2011: Novel molecular and computational methods improve the accuracy of insertion site analysis in Sleeping Beauty-induced tumors. Plos one 6(9): E24668
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Carreon-Martinez, L.B.; Wellband, K.W.; Johnson, T.B.; Ludsin, S.A.; Heath, D.D. 2014: Novel molecular approach demonstrates that turbid river plumes reduce predation mortality on larval fish. Molecular Ecology 23(21): 5366-5377
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Yao, Q.; Zhang, A.-m.; Ma, H.; Lin, S.; Wang, X.-x.; Sun, J.-g.; Chen, Z.-t. 2012: Novel molecular beacons to monitor micro RNAs in non-small-cell lung cancer. Molecular and Cellular Probes 26(5): 182-187
Bataveljic, D.; Milosevic, M.; Radenovic, L.; Andjus, P. 2014: Novel molecular biomarkers at the blood-brain barrier in ALS. Biomed Research International 2014: 907545
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Silvia, V.; Baldisserotto, A.; Scalambra, E.; Malisardi, G.; Durini, E.; Manfredini, S. 2012: Novel molecular combination deriving from natural aminoacids and polyphenols: Design, synthesis and free-radical scavenging activities. European Journal of Medicinal Chemistry 50: 383-392
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Fulton, J.M.; Fredricks, H.F.; Bidle, K.D.; Vardi, A.; Kendrick, B.J.; DiTullio, G.R.; Van Mooy, B.A.S. 2014: Novel molecular determinants of viral susceptibility and resistance in the lipidome of Emiliania huxleyi. Environmental Microbiology 16(4): 1137-1149
Tosch, V.ér.; Vasli, N.; Kretz, C.; Nicot, A.-S.; Gasnier, C.; Dondaine, N.; Oriot, D.; Barth, M.; Puissant, H.; Romero, N.B.; Bönnemann, C.G.; Heller, B.; Duval, G.; Biancalana, V.ér.; Laporte, J. 2010: Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. Neuromuscular Disorders: Nmd 20(6): 375-381
García, I.; Etxebarria, J.; Merayo-Lloves, J.ús.; Torras, J.; Boto-de-Los-Bueis, A.; Díaz-Valle, D.; Méndez-Fernández, R.ía.; Acera, A.; Suárez-Cortés, T. 2013: Novel molecular diagnostic system of limbal stem cell deficiency based on MUC5AC transcript detection in corneal epithelium by PCR-reverse dot blot. Investigative Ophthalmology and Visual Science 54(8): 5643-5652
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Zhang, M.; Maddala, R.; Rao, P.V. 2008: Novel molecular insights into RhoA GTPase-induced resistance to aqueous humor outflow through the trabecular meshwork. American Journal of Physiology. Cell Physiology 295(5): C1057-C1070
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Kang, H.-J.; Park, H.-J. 2009: Novel molecular mechanism for actinomycin D activity as an oncogenic promoter G-quadruplex binder. Biochemistry 48(31): 7392-7398
Namazi, H. 2008: Novel molecular mechanism to account for action of taurine against testicular ischemia-reperfusion injury. Urology 72(2): 465-466
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Pandey, U.; Korde, A.; Mukherjee, A.; Shinto, A.; Kamaleswaran, K.K.; Jose, R.P.; Gamre, N.; Dash, A. 2018: Clinical experience with indigenous kit-based preparation of 68Ga-DOTATOC using commercial 68Ge/68Ga generator. Applied Radiation and Isotopes: Including Data Instrumentation and Methods for use in Agriculture Industry and Medicine 136: 59-64
Yeh, E.; Fanganiello, R.D.; Sunaga, D.Y.; Zhou, X.; Holmes, G.; Rocha, K.M.; Alonso, N.; Matushita, H.; Wang, Y.; Jabs, E.W.; Passos-Bueno, M.Rita. 2013: Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome. Plos one 8(4): E60439
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Li, X.; Zhang, Z.; Yu, Z.; Magnusson, J.; Yu, J.-X. 2013: Novel molecular platform integrated iron chelation therapy for 1H-MRi detection of β-galactosidase activity. Molecular Pharmaceutics 10(4): 1360-1367
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Doll, A.; Abal, M.; Rigau, M.; Monge, M.; Gonzalez, M.; Demajo, S.; Colás, E.; Llauradó, M.; Alazzouzi, H.; Planagumá, J.; Lohmann, M.A.; Garcia, J.; Castellvi, S.; Ramon y Cajal, J.; Gil-Moreno, A.; Xercavins, J.; Alameda, F.; Reventós, J. 2008: Novel molecular profiles of endometrial cancer-new light through old windows. Journal of Steroid Biochemistry and Molecular Biology 108(3-5): 221-229
Goswami, T.; Shah, M.; Isaacs, C. 2009: Novel molecular prognostic markers in breast cancer. Expert Opinion on Medical Diagnostics 3(5): 523-532
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Capurso, G.; Fendrich, V.; Rinzivillo, M.; Panzuto, F.; Bartsch, D.K.; Delle Fave, G. 2012: Novel molecular targets for the treatment of gastroenteropancreatic endocrine tumors: answers and unsolved problems. International Journal of Molecular Sciences 14(1): 30-45
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Squire, M.M.; Carter, G.P.; Mackin, K.E.; Chakravorty, A.; Norén, T.ör.; Elliott, B.; Lyras, D.; Riley, T.V. 2013: Novel molecular type of Clostridium difficile in neonatal pigs, Western Australia. Emerging Infectious Diseases 19(5): 790-792
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Shingarova, L.N.; Boldyreva, E.F.; Yakimov, S.A.; Guryanova, S.V.; Dolgikh, D.A.; Nedospasov, S.A.; Kirpichnikov, M.P. 2010: Novel mutants of human tumor necrosis factor with dominant-negative properties. BIOCHEMISTRY. Biokhimiia 75(12): 1458-1463
Zamorano-León, J.é J.; Alonso-Orgaz, S.; Moreno, J.; Cinza, R.; García-Torrent, M.J.; Pérez-Castellano, N.; Pérez-Villacastín, J.án.; Macaya, C.; López-Farré, A.J. 2010: Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family. International Journal of Cardiology 142(2): 206-208
Saito, T.; Saito, Y.; Matsumura, K.; Tsubota, Y.; Maniwa, T.; Kaneda, H.; Minami, K.-i.; Sakaida, N.; Uemura, Y.; Kawa, G.; Yamamoto, N.; Fujii, Y.; Isobe, K.; Kawakami, Y.; Matsuda, T.; Takekoshi, K. 2009: Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis. Endocrine Journal 56(3): 451-458
Sato, S.; Ioi, H.; Kashiwagi, Y.; Kawashima, H.; Miyajima, T.; Naito, E.; Hoshika, A. 2010: Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency. Pediatrics International: Official Journal of the Japan Pediatric Society 52(4): E181-E183
Homer, V.M.; George, P.M. 2007: Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia. Clinical Chemistry 53(6): 1165-1167
Ichimiya, M.; Yamaguchi, M.; Nemoto, K.; Muto, M. 2013: Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. Journal of Dermatology 40(9): 757-758
Chen, X.; Sun, S.; Wang, C.; Chen, D.; Chen, H.; Ran, X. 2015: Novel mutation 928G>C of MEN1 gene in a familial multiple endocrine neoplasia type 1 case (MEN1) with co-existence of insulinoma and glucagonoma. Journal of Diabetes 7(3): 426-429
Vatanavicharn, N.; Kuptanon, C.; Liammongkolkul, S.; Liu, T.-T.; Hsiao, K.-J.; Ratanarak, P.; Blau, N.; Wasant, P. 2009: Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. Journal of Inherited Metabolic Disease 32(Suppl 1): S279-S282
Fritchie, K.; Siintola, E.; Armao, D.; Lehesjoki, A.-E.; Marino, T.; Powell, C.; Tennison, M.; Booker, J.M.; Koch, S.; Partanen, S.; Suzuki, K.; Tyynelä, J.; Thorne, L.B. 2009: Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10). Acta Neuropathologica 117(2): 201-208
Singh, A.; Cuevas-Covarrubias, S.; Pradhan, G.; Gautam, V.K.; Messina-Baas, O.; Gonzalez-Huerta, L.M.; Goyal, M.; Kapoor, S. 2015: Novel mutation and white matter involvement in an Indian child with pycnodysostosis. Indian Journal of Pediatrics 82(5): 471-473
Strasser, P.; Iglseder, B.; Ladurner, G.; Haschke-Becher, E. 2010: Novel mutation at codon 110 of the human APOE gene: impact on genotyping with fluorescent hybridization probes. Clinical Chemistry and Laboratory Medicine 48(12): 1835-1836
Jindal, R.; Ahmad, A.; Siddiqui, M.A.; Kochar, I.S.; Wangnoo, S.K. 2014: Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism. Diabetes and Metabolic Syndrome 8(1): 45-47
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Chiang, P.-W.; Spector, E.; Thomas, M.; Frei-Jones, M. 2010: Novel mutation causing Hermansky-Pudlak Syndrome Type 2. Pediatric Blood and Cancer 55(7): 1438
Gargus, J.J.; Tournay, A. 2007: Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatric Neurology 37(6): 407-410
Marques, M.; Ramalho, R.; Baldaque-Silva, F.; Macedo, G. 2013: Novel mutation identified in Cowden syndrome presenting as a gastric adenocarcinoma. Clinics and Research in Hepatology and Gastroenterology 37(6): E131-E132
Rimbara, E.; Noguchi, N.; Kawai, T.; Sasatsu, M. 2008: Novel mutation in 23S rRNA that confers low-level resistance to clarithromycin in Helicobacter pylori. Antimicrobial Agents and ChemoTherapy 52(9): 3465-3466
Moore, G.P.; Lines, M.A.; Geraghty, M.T.; de Nanassy, J.; Kovesi, T. 2014: Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings. American Journal of Respiratory and Critical Care Medicine 189(6): 750-752
Kuwaik, G.Abu.; Saldivar, J-Sebastian.; Yoon, G. 2012: Novel mutation in ARX associated with early hand preference and a mild phenotype. Journal of Developmental and Behavioral Pediatrics: Jdbp 33(7): 586-588
Kumar, N.; Taneja, K.K.; Kumar, A.; Nayar, D.; Taneja, B.; Aneja, S.; Behari, M.; Kalra, V.; Bansal, S.K. 2010: Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy. Journal of Genetics 89(4): 473-477
Silva, R.A.; Berrocal, A.M.; Lam, B.L.; Albini, T.A. 2013: Novel mutation in BEST1 associated with retinoschisis. JAMA Ophthalmology 131(6): 794-798
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Sbidian, E.; Bousseloua, N.; Jonard, L.; Leclerc-Mercier, S.ép.; Bodemer, C.; Hadj-Rabia, S. 2013: Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. Acta Dermato-Venereologica 93(2): 193-195
Al-Owain, M.; Colak, D.; Al-Bakheet, A.; Al-Hashmi, N.; Shuaib, T.; Al-Hemidan, A.; Aldhalaan, H.; Rahbeeni, Z.; Al-Sayed, M.; Al-Younes, B.; Ozand, P.T.; Kaya, N. 2012: Novel mutation in GLRB in a large family with hereditary hyperekplexia. Clinical Genetics 81(5): 479-484
Kurnik, K.; Bartsch, I.; Maul-Pavicic, A.; Ehl, S.; Sandrock-Lang, K.; Bidlingmaier, C.; Rombach, N.; Busse, A.; Belohradsky, B.H.; Müller-Höcker, J.; Aslanidis, C.; Schmitz, G.; Zieger, B. 2013: Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. Platelets 24(7): 538-543
Goldberg-Stern, H.; Kaufmann, R.; Kivity, S.; Afawi, Z.; Heron, S.E. 2009: Novel mutation in KCNQ2 causing benign familial neonatal seizures. Pediatric Neurology 41(5): 367-370
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Filho, H.C.d.M.; Marui, S.; Manna, T.D.; Brust, E.S.; Radonsky, V.; Kuperman, H.; Dichtchekenian, V.ê; Setian, N.; Damiani, D. 2011: Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. Arquivos Brasileiros de Endocrinologia e Metabologia 55(1): 60-66
Homayoun, H.; Khavandgar, S.; Hoover, J.M.; Mohsen, A.-W.; Vockley, J.; Lacomis, D.; Clemens, P.R. 2011: Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. Neuromuscular Disorders: Nmd 21(3): 219-222
Sohn, E.H.; Michaelides, M.; Bird, A.C.; Roberts, C.J.; Moore, A.T.; Smyth, D.; Brady, A.F.; Hungerford, J.L. 2011: Novel mutation in PANK2 associated with retinal telangiectasis. British Journal of Ophthalmology 95(1): 149-150
Cheon, C.K.; Lee, B.H.; Ko, J.M.; Kim, H.-J.; Yoo, H.-W. 2010: Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Pediatric Neurology 42(5): 369-371
Saltzman, R.W.; Monaco-Shawver, L.; Zhang, K.; Sullivan, K.E.; Filipovich, A.H.; Orange, J.S. 2012: Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity. Journal of Allergy and Clinical Immunology 129(6): 1666-1668
Giampietro, P.F.; Baker, M.W.; Basehore, M.J.; Jones, J.R.; Seroogy, C.M. 2013: Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia. American Journal of Medical Genetics. Part a 161a (6): 1432-1435
Gal, M.; Levanon, E.Y.; Hujeirat, Y.; Khayat, M.; Pe'er, J.; Shalev, S. 2014: Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability. American Journal of Medical Genetics. Part a 164a (12): 2996-3002
González-Pérez, P.; Cirulli, E.T.; Drory, V.E.; Dabby, R.; Nisipeanu, P.; Carasso, R.L.; Sadeh, M.; Fox, A.; Festoff, B.W.; Sapp, P.C.; McKenna-Yasek, D.; Goldstein, D.B.; Brown, R.H.; Blumen, S.C. 2012: Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology 79(22): 2201-2208
Akimoto, C.; Morita, M.; Yamamoto, M.; Nakano, I. 2010: Novel mutation in X-linked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP). Rinsho Shinkeigaku 50(6): 399-403
Schildgen, V.; Ziegler, S.; Tillmann, R.L.; Schildgen, O. 2010: Novel mutation in YMDD motif and direct neighbourhood in a child with chronic HBV-infection and clinical lamivudine and adefovir resistance - a scholarly case. Virology Journal 7: 167
Halászlaki, C.; Takács, I.án.; Patócs, A.; Lakatos, P.ét. 2011: Novel mutation in a patient with Carney complex. Orvosi Hetilap 152(20): 802-804
Girisha, K.M.; Shrikiran, A.; Bidchol, A.M.; Sakamoto, O.; Gopinath, P.M.; Satyamoorthy, K. 2012: Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type. Indian Journal of Human Genetics 18(3): 346-348
Lin, I.-C.; Yu, H.-R.; Lin, Y.-J.; Wang, T.-J. 2010: Novel mutation in boy with cartilage-hair hypoplasia. Pediatrics and Neonatology 51(6): 326-329
Basu, R.; Hazra, S.; Shanks, M.; Paterson, D.I.; Oudit, G.Y. 2014: Novel mutation in exon 14 of the sarcomere gene MYH7 in familial left ventricular noncompaction with bicuspid aortic valve. CIRCULATION. Heart Failure 7(6): 1059-1062
Zhu, J.-F.; Liu, H.-H.; Zhou, T.; Tian, L. 2013: Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy. International Journal of Molecular Medicine 32(5): 1166-1170
Das, D.K.; Jadhav, V.; Ghattargi, V.C.; Udani, V. 2014: Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome. Gene 538(1): 109-112
Jorge, C.áu.; Marques, J.ão.S.; Veiga, A.; Nóbrega, J.ão.; Cruz, J.; Peralta, R.; Correia, M.J.é; de Sousa, J.ão.; Miltenberger-Miltényi, G.áb.; Nunes Diogo, A.ón. 2011: Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy. Revista Portuguesa de Cardiologia: Orgao Oficial da Sociedade Portuguesa de Cardiologia 30(12): 929-935
Chinnaratha, M.A.; Venugopal, K.; de Boer, W.B.; Macquillan, G. 2013: Novel mutation in progressive familial intrahepatic cholestasis IIi. Liver International: Official Journal of the International Association for the Study of the Liver 33(8): 1293
Acsadi, G.; Moore, S.A.; Chéron, A.él.; Delalande, O.; Bennett, L.; Kupsky, W.; El-Baba, M.; Le Rumeur, E.; Hubert, J.-F.ço. 2012: Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. Journal of Biological Chemistry 287(22): 18153-18162
Xue, X.-H.; Wang, N.; Lin, Y.; Zhao, G.-X.; Fang, L.; Murong, S.; Wu, Z.-Y. 2008: Novel mutation in the ABCA1 gene identified in a chinese patient with dementia and atherothrombotic cerebral infarction. Dementia and Geriatric Cognitive Disorders 26(3): 234-238
Shin, J.-W.; Jung, K.-H.; Lee, S.-T.; Moon, J.; Seong, M.-W.; Park, S.S.; Lee, S.K.; Chu, K. 2014: Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia. Autonomic Neuroscience: Basic and Clinical 185: 141-143
Landouré, G.; Mochel, F.; Meilleur, K.; Ly, M.; Sangaré, M.; Bocoum, N.; Bagayoko, K.; Coulibaly, T.; Sarr, A.M.; Bâ, H.O.; Coulibaly, S.; Guinto, C.O.; Touré, M.; Traoré, M.; Fischbeck, K.H. 2013: Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. Journal of Neurology 260(1): 324-326
Miyabe, C.; Mitsuhashi, Y.; Saito, M.; Tsuboi, R. 2012: Novel mutation in the ATP2A2 gene in a Japanese Darier's disease patient with extremely hyperkeratotic lesions. Journal of Dermatology 39(4): 401-403
Kirchmeier, P.; Sayar, E.; Hotz, A.; Hausser, I.; Islek, A.; Yilmaz, A.; Artan, R.; Fischer, J. 2014: Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome. British Journal of Dermatology 170(4): 976-978
Foroughmand, A.M.; Galehdari, H.; Rasouli, M.; Mohammadian, G.; Mohammadi, M. 2008: Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses. Pakistan Journal of Biological Sciences: Pjbs 11(7): 1037-1041
Silva, D.; Miltenberger-Miltenyi, G.; Correia, M.J.é; Diogo, A.ón.N. 2013: Novel mutation in the KCNH2 gene associated with long QT syndrome. Revista Portuguesa de Cardiologia: Orgao Oficial da Sociedade Portuguesa de Cardiologia 32(2): 163-164
Fernlund, E.; Lundin, C.; Hertervig, E.; Kongstad, O.; Alders, M.; Platonov, P. 2013: Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. Annals of Noninvasive Electrocardiology: the Official Journal of the International Society for Holter and Noninvasive Electrocardiology Inc 18(5): 471-478
Traoré, M.; Landouré, G.; Motley, W.; Sangaré, M.; Meilleur, K.; Coulibaly, S.; Traoré, S.; Niaré, B.; Mochel, F.; La Pean, A.; Vortmeyer, A.; Mani, H.; Fischbeck, K.H. 2009: Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics 10(4): 319-323
Saleheen, D.; Ali, T.; Aly, Z.; Khealani, B.; Frossard, P.M. 2007: Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family. Pediatric Neurology 37(4): 296-298
Niu, F.; Yu, S.; Zhang, Z.; Yi, X.; Ye, L.; Tang, W.; Qiu, C.; Wen, H.; Sun, Y.; Gao, J.; Guo, Y. 2014: Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family. Neurobiology of Aging 35(10): 2420.E1-5
Valdivielso-Ramos, M.; Solera, J.; Mauleon, C.; Hernanz, J.M.; Amiñoso, C.; Galiano, S.; De la Cueva, P. 2014: Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features. Clinical and Experimental Dermatology 39(3): 406-407
Hu, D.; Viskin, S.; Oliva, A.; Carrier, T.; Cordeiro, J.M.; Barajas-Martinez, H.; Wu, Y.; Burashnikov, E.; Sicouri, S.; Brugada, R.; Rosso, R.; Guerchicoff, A.; Pollevick, G.D.; Antzelevitch, C. 2007: Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction. Heart Rhythm 4(8): 1072-1080
Ghaemi, N.; Ghahraman, M.; Abbaszadegan, M.R.; Baradaran-Heravi, A.; Vakili, R. 2013: Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases. Journal of Clinical Research in Pediatric Endocrinology 5(3): 199-201
Lu, Q.; Cheng, L.; Chen, L.; Song, L.; Xiao, Z.; Wang, G. 2014: Novel mutation in the STAT3 gene in a Chinese boy with hyper-immunoglobulin e syndrome. Journal of Dermatology 41(7): 658-659
Kodama, K.; Noguchi, A.; Adachi, H.; Hebiguchi, M.; Yano, M.; Takahashi, T. 2014: Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia. Pediatrics International: Official Journal of the Japan Pediatric Society 56(4): E41-E44
Vendramini, M.F.; Kasamatsu, T.S.; Crispim, F.; Ferreira, S.R.; Matioli, S.R.; Moisés, R.S.; Hirai, A.; Hirai, A.él.T.; Harima, H.; Osiro, K.; Iunes, M.; Kikuchi, M.ár.; Ferreira, S.R.G.; Gimeno, S.G.A.; Franco, L.ér.J.; Matsumura, L.; Moisés, R.S.; Cardoso, M.A.; de Barros, N.; Tomita, N.; Wakisaka, K.; Chaim, R. 2009: Novel mutation in the adiponectin (ADIPOQ) gene is associated with hypoadiponectinaemia in Japanese-Brazilians. Clinical Endocrinology 71(1): 50-55
Ismail, S.; Schaffer, A.E.; Rosti, R.O.; Gleeson, J.G.; Zaki, M.S. 2014: Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Gene 539(2): 279-282
Vanita, V.; Singh, J.R.; Singh, D.; Varon, R.; Sperling, K. 2009: Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. Molecular Vision 15: 476-481
Mahfouz, R.A.; Bolz, H.J.; Otrock, Z.K.; Bergmann, C.; Muwakkit, S. 2012: Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. Blood Coagulation and Fibrinolysis: An International Journal in Haemostasis and Thrombosis 23(4): 335-337
Beneduzzi, D.; Trarbach, E.B.; Latronico, A.C.; Mendonca, B.B.d.; Silveira, L.íc.F.G. 2012: Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism. Arquivos Brasileiros de Endocrinologia e Metabologia 56(8): 540-544
Schild, C.; Prera, E.; Lüblinghoff, N.; Arndt, S.; Aschendorff, A.; Birkenhäger, R. 2011: Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss. Otology and Neurotology: Official Publication of the American Otological Society American Neurotology Society and European Academy of Otology and Neurotology 32(4): 690-694
Raicu, F.; Giuliani, R.; Gatta, V.; Palka, C.; Franchi, P.G.; Lelli-Chiesa, P.; Tumini, S.; Stuppia, L. 2008: Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. Asian Journal of Andrology 10(4): 687-691
Wasniewska, M.; Mirabelli, S.; Baldazzi, L.; Salzano, G.; Messina, M.F.; Lombardo, F.; Valenzise, M.; Arrigo, T.; De Luca, F. 2009: Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9. Journal of Endocrinological Investigation 32(7): 633
Al-Futaisi, A.M.; Al-Kindi, M.N.; Al-Mawali, A.-M.; Koul, R.L.; Al-Adawi, S.; Al-Yahyaee, S.A. 2012: Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation. Pediatric Neurology 46(2): 89-93
Lee, Y.W.; Yang, E.A.; Kang, H.J.; Yang, X.; Mitsuiki, N.; Ohara, O.; Miyawaki, T.; Kanegane, H.; Lee, J.H. 2013: Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency. Journal of Investigational Allergology and Clinical Immunology 23(1): 65-67
Liu, T.; Yue, Z.; Wang, H.; Tong, H.; Sun, L. 2015: Novel mutation of OCRL1 in Lowe syndrome. Indian Journal of Pediatrics 82(1): 89-92
Li, N.; Zhang, J.; Guo, J.-f.; Yan, X.-x.; Xia, K.; Tang, B.-s. 2010: Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. Neuroscience Letters 480(3): 211-214
Rubino, E.; Giorgio, E.; Gallone, S.; Pinessi, L.; Orsi, L.; Gentile, S.; Duca, S.; Brusco, A. 2014: Novel mutation of SLC20A2 in an Italian patient presenting with migraine. Journal of Neurology 261(10): 2019-2021
Shabir, I.; Marumudi, E.; Khurana, M.L.; Khadgawat, R. 2012: Novel mutation of SRD5A2 gene in a patient with 5α-reductase 2 deficiency from India. BMJ Case Reports
Yuan, P.; Yue, Z.; Sun, L.; Huang, W.; Hu, B.; Yang, Z.; Hu, Y.; Xiao, H.; Shi, H.; Zhou, Q.; Wang, Y. 2011: Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. Journal of Bone and Mineral Metabolism 29(2): 251-256
Li, W.; Hu, Z.-M.; Xie, Z.-G.; He, H.-B.; Pan, Q.; Xia, K.; Xia, J.-H. 2007: Novel mutation of Y271H in EXT1 gene causes multiple exostoses. Zhong Nan da Xue Xue Bao. Yi Xue Ban 32(4): 546-550
Moon, S.-S.; Kim, H.-J.; Choi, Y.-K.; Seo, H.-A.; Jeon, J.-H.; Lee, J.-E.; Lee, J.-Y.; Kwon, T.-H.; Kim, J.-G.; Kim, B.-W.; Lee, I.-K. 2009: Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus. Endocrine Journal 56(7): 905-910
Unalp, A.; Altiok, E.; Uran, N.; Oztürk, A.; Yüksel, S. 2008: Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease. Journal of Tropical Pediatrics 54(3): 208-210
Korematsu, S.; Kosugi, Y.; Kumamoto, T.; Yamaguchi, S.; Izumi, T. 2009: Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency. Pediatric Neurology 41(2): 151-153
Makino, T.; Furuichi, M.; Asano, Y.; Shimizu, T. 2012: Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. Journal of Dermatology 39(1): 87-89
Rathore, G.S.; Schaaf, C.P.; Stocco, A.J. 2014: Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. Movement Disorders: Official Journal of the Movement Disorder Society 29(4): 574-575
Mahdaviani, S.A.; Hirbod-Mobarakeh, A.; Wang, N.; Aghamohammadi, A.; Hammarström, L.; Masjedi, M.R.; Pan-Hammarström, Q.; Rezaei, N. 2012: Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome. Expert Review of Clinical Immunology 8(6): 539-546
Gao, F.; Liu, Q.-c.; Wang, M.; Wang, Z.-q.; Huang, Y.; Zhou, X.-h.; Zhang, S. 2009: Novel mutation of the cyclin-dependent kinase 4 gene in a Chinese patient with intimal sarcoma of the pulmonary artery. Chinese Medical Journal 122(9): 1107-1109
Bergamin, G.; Dalla Torre, C.; Cacciavillani, M.; Lucchetta, M.; Boaretto, F.; Campagnolo, M.; Mostacciuolo, M.L.; Briani, C. 2014: Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2. Muscle and Nerve 49(1): 145-146
Bohlega, S. 2011: Novel mutation of the notch3 gene in arabic family with CADASIL. Neurology International 3(2): E6
Al-Jasmi, F.; Abdelhaleem, M.; Stockley, T.; Lee, K.-S.; Clarke, J.T.R. 2008: Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis. Journal of Pediatric Hematology/Oncology 30(8): 621-624
Battaglia, F.; Plotti, F.; Angelucci, M.; Aloisi, A.; Angioli, R. 2013: Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report. Journal of Obstetrics and Gynaecology Research 39(1): 442-445
Nemoto-Hasebe, I.; Akiyama, M.; Kudo, S.; Ishiko, A.; Tanaka, A.; Arita, K.; Shimizu, H. 2009: Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. British Journal of Dermatology 161(2): 452-455
Citterio, C.E.; Rossetti, L.C.; Souchon, P.F.; Morales, C.; Thouvard-Viprey, M.; Salmon-Musial, A.S.; Mauran, P.L.A.; Doco-Fenzy, M.; González-Sarmiento, R.; Rivolta, C.M.; De Brasi, C.D.; Targovnik, H.éc.M. 2013: Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism. Molecular and Cellular Endocrinology 381(1-2): 220-229
Zhu, L.; Wang, Y.; Zhao, M.; Hao, X.; Xie, H.; Xie, Y.; Wang, M.; Ding, H. 2014: Novel mutations (γTrp208Leu and γLys232Thr) leading to congenital hypofibrinogenemia in two unrelated Chinese families. Blood Coagulation and Fibrinolysis: An International Journal in Haemostasis and Thrombosis 25(8): 894-897
Ashmore, L.J.; Hrizo, S.L.; Paul, S.M.; Van Voorhies, W.A.; Beitel, G.J.; Palladino, M.J. 2009: Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity. Human Genetics 126(3): 431-447
Padma, G.; Ramchander, P.V.; Nandur, V.U.; Kumar, K.R.; Padma, T. 2012: Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment. Genetic Testing and Molecular Biomarkers 16(9): 1092-1097
Kim, J.H.; Lee, B.H.; Kim, Y.-M.; Choi, J.-H.; Kim, G.-H.; Cheon, C.K.; Yoo, H.-W. 2015: Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. Metabolic Brain Disease 30(1): 75-81
Michaelides, M.; Li, Z.; Rana, N.A.; Richardson, E.C.; Hykin, P.G.; Moore, A.T.; Holder, G.E.; Webster, A.R. 2010: Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). Ophthalmology 117(1): 120-127.E1
Yalniz, Z.üb.; Tigli, H.; Tigli, H.; Sanli, O.; Dalay, N.; Buyru, N. 2014: Novel mutations and role of the LKB1 gene as a tumor suppressor in renal cell carcinoma. Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine 35(12): 12361-12368
Meng, W.-J.; Wang, L.; Tian, C.; Yu, Y.-Y.; Zhou, B.; Gu, J.; Xia, Q.-J.; Sun, X.-F.; Li, Y.; Wang, R.; Zheng, X.-L.; Zhou, Z.-G. 2007: Novel mutations and sequence variants in exons 3-9 of human T cell factor-4 gene in sporadic rectal cancer patients stratified by microsatellite instability. World Journal of Gastroenterology 13(27): 3747-3751
Ruiz-Ferrer, M.; Torroglosa, A.; Luzón-Toro, B.; Fernández, R.M.; Antiñolo, G.; Mulligan, L.M.; Borrego, S. 2011: Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease. Journal of Molecular Medicine 89(5): 471-480
Ma, J.; Xiong, L.; Chang, Y.; Jing, X.; Huang, W.; Hu, B.; Shi, X.; Xu, W.; Wang, Y.; Li, X. 2014: Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum. Parkinsonism and Related Disorders 20(2): 256-259
Li, H.; Spencer, L.; Nahhas, F.; Miller, J.; Fribley, A.; Feldman, G.; Conway, R.; Wolf, B. 2014: Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. Molecular Genetics and Metabolism 112(3): 242-246
Sinha, A.; Waterham, H.R.; Sreedhar, K.V.; Jain, V. 2012: Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome. Indian Pediatrics 49(7): 583-585
Nichols, M.J.; Saavedra-Matiz, C.A.; Pass, K.A.; Caggana, M. 2008: Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. American Journal of Medical Genetics. Part A 146a(5): 610-619
Arráiz, N.; Bermúdez, V.; Rondon, N.; Reyes, F.; Borjas, L.; Solís, E.; Mujica, E.; Prieto, C.; Reyna, N.; Velasco, M. 2010: Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population. American Journal of Therapeutics 17(3): 325-329
Zahoor, I.; Hamid, Z.; Asimi, R.; Haq, E. 2014: Novel mutations identified in EIF2B5 gene in Kashmiri patients as susceptibility factor for multiple sclerosis. Indian Journal of Biochemistry and Biophysics 51(2): 115-120
Sasongko, T.H.; Wataya-Kaneda, M.; Koterazawa, K.; Gunadi; Yusoff, S.; Harahap, I.S.K.; Lee, M.J.; Matsuo, M.; Nishio, H. 2008: Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14. Kobe Journal of Medical Sciences 54(1): E73-E81
Petrie, K.A.; Lee, W.H.; Bullock, A.N.; Pointon, J.J.; Smith, R.; Russell, R.G.G.; Brown, M.A.; Wordsworth, B.P.; Triffitt, J.T. 2009: Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. Plos one 4(3): E5005
Ben-Salem, S.; Hertecant, J.; Al-Shamsi, A.M.; Ali, B.R.; Al-Gazali, L. 2013: Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. Birth Defects Research. Part a Clinical and Molecular Teratology 97(12): 764-769
Li, X.; Chai, Y.; Tao, Z.; Li, L.; Huang, Z.; Li, Y.; Wu, H.; Yang, T. 2012: Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis. International Journal of Pediatric Otorhinolaryngology 76(1): 152-154
Elango, S.; Venugopal, S.; Thangaraj, K.; Viswanadha, V.P. 2014: Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes. Diabetes Research and Clinical Practice 103(3): E49-E52
Pousada, G.; Baloira, A.; Vilariño, C.; Cifrian, J.M.; Valverde, D. 2014: Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. Plos one 9(6): E100261
Kim, S.; Kim, D.-H.D.; Jang, J.-H.; Jung, C.-W.; Jang, M.-A.; Ki, C.-S.; Kim, J.-W.; Kim, S.-H.; Kim, H.-J. 2012: Novel mutations in CEBPA in Korean Patients with acute myeloid leukemia with a normal karyotype. Annals of Laboratory Medicine 32(2): 153-157
Soardi, F.C.; Penachioni, J.Y.; Justo, G.Z.; Bachega, T.ân.A.S.S.; Inácio, M.; Mendonça, B.B.; de Castro, M.; de Mello, M.P. 2009: Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients. Journal of Clinical Endocrinology and Metabolism 94(9): 3481-3485
Wang, J.; Yu, J.; Liu, J.; Yuan, Y.; Li, N.; He, M.; Qi, T.; Hui, G.; Xiong, L.; Liu, D. 2014: Novel mutations in CYP51B from Penicillium digitatum involved in prochloraz resistance. Journal of Microbiology 52(9): 762-770
Xu, X.-q.; Feng, Y.-y.; Yuan, W.-x.; Huang, K.; Liang, L.; Fu, J.-f. 2013: Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family. Endocrine Practice: Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 19(4): E105-E111
Hershkovitz, D.; Lugassy, J.; Indelman, M.; Bergman, R.; Sprecher, E. 2009: Novel mutations in DSG1 causing striate palmoplantar keratoderma. Clinical and Experimental Dermatology 34(2): 224-228
Lesca, G.; Boutry-Kryza, N.; de Toffol, B.; Milh, M.; Steschenko, D.; Lemesle-Martin, M.; Maillard, L.; Foletti, G.; Rudolf, G.; Nielsen, J.ør.E.; á Rogvi-Hansen, B.; Erdal, J.; Mancini, J.; Thauvin-Robinet, C.; M'Rrabet, A.; Ville, D.ée.; Szepetowski, P.; Raffo, E.; Hirsch, E.; Ryvlin, P.; Calender, A.; Genton, P. 2010: Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. Epilepsia 51(9): 1691-1698
Zhou, P.; Liu, Y.; Lv, F.; Nie, M.; Jiang, Y.; Wang, O.; Xia, W.; Xing, X.; Li, M. 2014: Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients. Plos one 9(9): E107594
Schorderet, D.F.; Tiab, L.; Gaillard, M-Claire.; Lorenz, B.; Klainguti, G.; Kerrison, J.B.; Traboulsi, E.I.; Munier, F.L. 2007: Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Human Mutation 28(5): 525
Yancovitch, A.; Hershkovitz, D.; Indelman, M.; Galloway, P.; Whiteford, M.; Sprecher, E.; Kılıç, E. 2011: Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. Journal of Bone and Mineral Metabolism 29(5): 621-625
Cappelli, A.; Tumini, S.; Consoli, A.; Carinci, S.; Piersanti, C.; Ruggiero, G.; Simonella, G.; Soletti, F.; Staffolani, P.; Pianese, L. 2009: Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. Diabetes Research and Clinical Practice 83(3): E72-E74
Fenwick, A.; Richardson, R.J.; Butterworth, J.; Barron, M.J.; Dixon, M.J. 2008: Novel mutations in GJA1 cause oculodentodigital syndrome. Journal of Dental Research 87(11): 1021-1026
Vijapurkar, M.; Ghosh, K.; Shetty, S. 2009: Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India. Platelets 20(1): 35-40
Jehee, F.S.; Burin, B.A.; Rocha, K.át.M.; Zechi-Ceide, R.; Bueno, D.F.; Brito, L.; Souza, J.; Leal, G.F.; Richieri-Costa, A.; Alonso, N.; Otto, P.A.; Passos-Bueno, M.R. 2009: Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?. American Journal of Medical Genetics. Part a 149a (6): 1319-1322
Phadke, S.R.; Fischer, B.; Gupta, N.; Ranganath, P.; Kabra, M.; Kornak, U. 2010: Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. Indian Journal of Medical Research 131: 508-514
Louhichi, N.; Richard, P.; Triki, C.H.; Meziou, M.; Ayadi, H.; Guicheney, P.; Fakhfakh, F. 2006: Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families. Archives de l'Institut Pasteur de Tunis 83(1-4): 19-23
Rajab, A.; Kelberman, D.; de Castro, S.C.P.; Biebermann, H.; Shaikh, H.; Pearce, K.; Hall, C.M.; Shaikh, G.; Gerrelli, D.; Grueters, A.; Krude, H.; Dattani, M.T. 2008: Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. Human Molecular Genetics 17(14): 2150-2159
Allache, R.; Lachance, S.ép.; Guyot, M.C.; De Marco, P.; Merello, E.; Justice, M.J.; Capra, V.; Kibar, Z. 2014: Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway. Human Molecular Genetics 23(7): 1687-1699
Mackay, D.S.; Henderson, R.H.; Sergouniotis, P.I.; Li, Z.; Moradi, P.; Holder, G.E.; Waseem, N.; Bhattacharya, S.S.; Aldahmesh, M.A.; Alkuraya, F.S.; Meyer, B.; Webster, A.R.; Moore, A.T. 2010: Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Molecular Vision 16: 369-377
Mistry, K.; Ireland, J.H.E.; Ng, R.C.K.; Henderson, J.M.; Pollak, M.R. 2007: Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation 50(5): 855-864
Wong, C.K. 2014: Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy. Clinical Genetics 85(6): 532-533
Lau, C.-K.; Hui, J.; Fong, F.N.Y.; To, K.-F.; Fok, T.-F.; Tang, N.L.S.; Tsui, S.K.W. 2011: Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China. Molecular Genetics and Metabolism 102(2): 222-225
Nandagopalan, R.S.; Phadke, S.R.; Dalal, A.B.; Ranganath, P. 2014: Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Indian Journal of Medical Research 140(2): 221-226
Frazier-Bowers, S.A.; Hendricks, H.M.; Wright, J.T.; Lee, J.; Long, K.; Dibble, C.F.; Bencharit, S. 2014: Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis. Journal of Dental Research 93(2): 134-139
Dalal, I.; Tasher, D.; Somech, R.; Etzioni, A.; Garti, B.-Z.; Lev, D.; Cohen, S.; Somekh, E.; Leshinsky-Silver, E. 2011: Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. Clinical Immunology 140(3): 284-290
Ajmal, M.; Khan, M.I.; Neveling, K.; Khan, Y.M.; Ali, S.H.B.; Ahmed, W.; Iqbal, M.S.; Azam, M.; den Hollander, A.I.; Collin, R.W.J.; Qamar, R.; Cremers, F.P.M. 2012: Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. Molecular Vision 18: 1558-1571
Kabir, F.; Naz, S.; Riazuddin, S.A.; Naeem, M.A.; Khan, S.N.; Husnain, T.; Akram, J.; Sieving, P.A.; Hejtmancik, J.F.; Riazuddin, S. 2013: Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. Molecular Vision 19: 1554-1564
Guidubaldi, A.; Piano, C.; Santorelli, F.M.; Silvestri, G.; Petracca, M.; Tessa, A.; Bentivoglio, A.R. 2011: Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism. Movement Disorders: Official Journal of the Movement Disorder Society 26(3): 553-556
Mohammadi, J.; Liu, C.; Aghamohammadi, A.; Bergbreiter, A.; Du, L.; Lu, J.; Rezaei, N.; Amirzargar, A.A.; Moin, M.; Salzer, U.; Pan-Hammarström, Q.; Hammarström, L. 2009: Novel mutations in TACi (TNFRSF13B) causing common variable immunodeficiency. Journal of Clinical Immunology 29(6): 777-785
Rutherford, N.J.; Zhang, Y.-J.; Baker, M.; Gass, J.M.; Finch, N.A.; Xu, Y.-F.; Stewart, H.; Kelley, B.J.; Kuntz, K.; Crook, R.J.P.; Sreedharan, J.; Vance, C.; Sorenson, E.; Lippa, C.; Bigio, E.H.; Geschwind, D.H.; Knopman, D.S.; Mitsumoto, H.; Petersen, R.C.; Cashman, N.R.; Hutton, M.; Shaw, C.E.; Boylan, K.B.; Boeve, B.; Graff-Radford, N.R.; Wszolek, Z.K.; Caselli, R.J.; Dickson, D.W.; Mackenzie, I.R.; Petrucelli, L.; Rademakers, R. 2008: Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. Plos Genetics 4(9): E1000193
Bhide, M.R.; Mucha, R.; Mikula, I.; Kisova, L.; Skrabana, R.; Novak, M.; Mikula, I. 2009: Novel mutations in TLR genes cause hyporesponsiveness to Mycobacterium avium subsp. paratuberculosis infection. Bmc Genetics 10: 21
Fabre, A.; Martinez-Vinson, C.; Roquelaure, B.; Missirian, C.; André, N.; Breton, A.; Lachaux, A.; Odul, E.; Colomb, V.; Lemale, J.; Cézard, J.-P.; Goulet, O.; Sarles, J.; Levy, N.; Badens, C. 2011: Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Human Mutation 32(3): 277-281
Giri, S.; Patel, J.K.; Mahadevan, D. 2014: Novel mutations in a patient with ALK-rearranged lung cancer. New England Journal of Medicine 371(17): 1655-1656
Pokrovskii, M.V.; Bush, C.O.; Beran, R.K.F.; Robinson, M.F.; Cheng, G.; Tirunagari, N.; Fenaux, M.; Greenstein, A.E.; Zhong, W.; Delaney, W.E.; Paulson, M.S. 2011: Novel mutations in a tissue culture-adapted hepatitis C virus strain improve infectious-virus stability and markedly enhance infection kinetics. Journal of Virology 85(8): 3978-3985
Pamuru, P.R.; Maithili, D.V.N.; Mohiuddin, K.; Calambur, N.; Nallari, P. 2011: Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population. Indian Journal of Human Genetics 17(2): 70-76
Davis, M.Y.; Keene, C.D.; Swanson, P.D.; Sheehy, C.; Bird, T.D. 2013: Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. Journal of the Neurological Sciences 335(1-2): 134-138
Boda, U.; Vadapalli, S.; Calambur, N.; Nallari, P. 2009: Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population. Journal of Genetics 88(3): 373-377
Jain, A.; Mondal, R.; Srivastava, S.; Prasad, R.; Singh, K.; Ahuja, R.C. 2008: Novel mutations in emb B gene of ethambutol resistant isolates of Mycobacterium tuberculosis: a preliminary report. Indian journal of medical research 128(5): 634-639
Kuniyoshi, K.; Hayashi, T.; Sakuramoto, H.; Nakao, A.; Sato, T.; Utsumi, T.; Tsuneoka, H.; Shimomura, Y. 2013: Novel mutations in enhanced S-cone syndrome. Ophthalmology 120(2): 431.E1-6
Fresquet, M.; Jackson, G.C.; Loughlin, J.; Briggs, M.D. 2008: Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3. Human Mutation 29(2): 330
Quadros, L.; Ghosh, K.; Shetty, S. 2009: Novel mutations in factor IX gene from western India with reference to their phenotypic and haplotypic attributes. Journal of Pediatric Hematology/Oncology 31(3): 157-160
Porayette, P.; Fruitman, D.; Lauzon, J.L.; Le Goff, C.; Cormier-Daire, V.ér.; Sanders, S.P.; Pinto-Rojas, A.; Perez-Atayde, A.R. 2014: Novel mutations in geleophysic dysplasia type 1. Pediatric and Developmental Pathology: the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 17(3): 209-216
Corrochano, S.; Männikkö, R.; Joyce, P.I.; McGoldrick, P.; Wettstein, J.; Lassi, G.; Raja Rayan, D.L.; Blanco, G.; Quinn, C.; Liavas, A.; Lionikas, A.; Amior, N.; Dick, J.; Healy, E.G.; Stewart, M.; Carter, S.; Hutchinson, M.; Bentley, L.; Fratta, P.; Cortese, A.; Cox, R.; Brown, S.D.M.; Tucci, V.; Wackerhage, H.; Amato, A.A.; Greensmith, L.; Koltzenburg, M.; Hanna, M.G.; Acevedo-Arozena, A. 2014: Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. Brain: a Journal of Neurology 137(Part 12): 3171-3185
Freiberg, J.J.; Tybjaerg-Hansen, A.; Nordestgaard, B.G. 2010: Novel mutations in leukotriene C4 synthase and risk of cardiovascular disease based on genotypes from 50,000 individuals. Journal of Thrombosis and Haemostasis: Jth 8(8): 1694-1701
Aminoff, A.; Gunnar, E.; Barbaro, M.; Mannila, M.N.; Duponchel, C.; Tosi, M.; Robinson, K.L.; Hernell, O.; Ehrenborg, E. 2012: Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. Clinical Genetics 82(2): 197-200
Cho, S.Y.; Siu, T.-S.; Ma, O.; Tam, S.; Lam, C.-w. 2013: Novel mutations in myopathic form of carnitine palmitoyltransferase Ii deficiency in a Chinese patient. Clinica Chimica Acta; International Journal of Clinical Chemistry 425: 125-127
Khan, S.; Ali, R.H.; Abbasi, S.; Nawaz, M.; Muhammad, N.; Ahmad, W. 2012: Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux. Bmc Medical Genetics 13: 44
García-Consuegra, I.; Rubio, J.C.; Nogales-Gadea, G.; Bautista, J.; Jiménez, S.; Cabello, A.; Lucía, A.; Andreu, A.L.; Arenas, J.; Martin, M.A. 2009: Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. Journal of Medical Genetics 46(3): 198-202
Ba, X.; Harrison, E.M.; Edwards, G.F.; Holden, M.T.G.; Larsen, A.R.; Petersen, A.; Skov, R.L.; Peacock, S.J.; Parkhill, J.; Paterson, G.K.; Holmes, M.A. 2014: Novel mutations in penicillin-binding protein genes in clinical Staphylococcus aureus isolates that are methicillin resistant on susceptibility testing, but lack the mec gene. Journal of Antimicrobial ChemoTherapy 69(3): 594-597
Millet, A.; Salomons, G.S.; Cneude, F.; Corne, C.; Debillon, T.; Jakobs, C.; Struys, E.; Hamelin, S. 2011: Novel mutations in pyridoxine-dependent epilepsy. European Journal of Paediatric Neurology: Ejpn: Official Journal of the European Paediatric Neurology Society 15(1): 74-77
Brunham, L.R.; Tietjen, I.; Bochem, A.E.; Singaraja, R.R.; Franchini, P.L.; Radomski, C.; Mattice, M.; Legendre, A.; Hovingh, G.K.; Kastelein, J.J.P.; Hayden, M.R. 2011: Novel mutations in scavenger receptor Bi associated with high HDL cholesterol in humans. Clinical Genetics 79(6): 575-581
Bower, M.A.; Bushara, K.; Dempsey, M.A.; Das, S.; Tuite, P.J. 2011: Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN). Movement Disorders: Official Journal of the Movement Disorder Society 26(9): 1768-1769
Mbarek, I.B.; Abroug, S.; Omezzine, A.; Pawtowski, A.; Gubler, M.C.; Bouslama, A.; Harbi, A.; Antignac, C. 2011: Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children. Pediatric Nephrology 26(2): 241-249
Russo, S.; Marchi, M.; Cogliati, F.; Bonati, M.T.; Pintaudi, M.; Veneselli, E.; Saletti, V.; Balestrini, M.; Ben-Zeev, B.; Larizza, L. 2009: Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10(3): 241-250
Lakraj, A.Amrita.; Miller, G.; Vortmeyer, A.O.; Khokhar, B.; Nowak, R.J.; DiCapua, D.B. 2013: Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. Yale Journal of Biology and Medicine 86(1): 101-106
Cao, L.; Fei, Q.-Z.; Tang, W.-G.; Liu, J.-R.; Zheng, L.; Xiao, Q.; He, S.-B.; Fu, Y.; Chen, S.-D. 2011: Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia. Movement Disorders: Official Journal of the Movement Disorder Society 26(7): 1354-1356
Devgun, M.S.; El-Nujumi, A.M.; O'Dowd, G.J.; Barbu, V.ér.; Poupon, R. 2012: Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes. Annals of Clinical Biochemistry 49(Part 6): 609-612
Moroni, I.; Morbin, M.; Milani, M.; Ciano, C.; Bugiani, M.; Pagliano, E.; Cavallaro, T.; Pareyson, D.; Taroni, F. 2009: Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. Neuromuscular Disorders: Nmd 19(7): 476-480
Babu, D.; Mellone, S.; Fusco, I.; Petri, A.; Walker, G.E.; Bellone, S.; Prodam, F.; Momigliano-Richiardi, P.; Bona, G.; Giordano, M. 2014: Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements. Endocrinology 155(5): 1786-1792
Carmona-Rivera, C.; Hess, R.A.; O'Brien, K.; Golas, G.; Tsilou, E.; White, J.G.; Gahl, W.A.; Huizing, M. 2011: Novel mutations in the HPS1 gene among Puerto Rican patients. Clinical Genetics 79(6): 561-567
Paranaíba, L.ív.M.ár.R.; Martelli-Júnior, H.íl.; Oliveira Swerts, M.ár.S.; Line, S.R.P.; Coletta, R.D. 2008: Novel mutations in the IRF6 gene in Brazilian families with van der Woude syndrome. International Journal of Molecular Medicine 22(4): 507-511
Bertolin, C.; Boaretto, F.; Barbon, G.; Salviati, L.; Lapi, E.; Divizia, M.T.; Garavelli, L.; Occhi, G.; Vazza, G.; Mostacciuolo, M.L. 2010: Novel mutations in the L1CAM gene support the complexity of L1 syndrome. Journal of the Neurological Sciences 294(1-2): 124-126
Hoefs, S.J.G.; Skjeldal, O.H.; Rodenburg, R.J.; Nedregaard, B.år.; van Kaauwen, E.P.M.; Spiekerkötter, U.; von Kleist-Retzow, J.ür.-C.; Smeitink, J.A.M.; Nijtmans, L.G.; van den Heuvel, L.P. 2010: Novel mutations in the NDUFS1 gene cause low residual activities in human complex i deficiencies. Molecular Genetics and Metabolism 100(3): 251-256
Pasternack, S.M.; Murugusundram, S.; Eigelshoven, S.; Müller, M.; Kruse, R.; Lehmann, P.; Betz, R.C. 2009: Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. Archives of Dermatological Research 301(8): 621-624
Zhang, L.; Jia, R.; Zhao, J.; Fan, J.; Zhou, Y.; Han, B.; Song, X.; Wu, L.; Zhang, H.; Song, H.; Ge, S.; Fan, X. 2015: Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma. Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine 36(4): 2409-2420
Wang, J.; Yu, T.; Yin, L.; Li, J.; Yu, L.; Shen, Y.; Yu, Y.; Shen, Y.; Fu, Q. 2013: Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. Plos one 8(6): E65676
Carvalho, V.M.; Perdigão, P.F.; Amaral, F.R.; de Souza, P.E.A.; De Marco, L.; Gomez, R.S. 2009: Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. Oral Diseases 15(1): 106-110
Wang, H.; Shu, S.; Chen, C.; Huang, Z.; Wang, D. 2015: Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations. Journal of Pediatric Endocrinology and Metabolism: Jpem 28(3-4): 471-475
Jiang, L.; Chen, H.; Jiang, W.; Hu, Z.; Mei, L.; Xue, J.; He, C.; Liu, Y.; Xia, K.; Feng, Y. 2011: Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome. Biochemical and Biophysical Research Communications 408(4): 620-624
Ausavarat, S.; Leoyklang, P.; Vejchapipat, P.; Chongsrisawat, V.; Suphapeetiporn, K.; Shotelersuk, V. 2009: Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome. World Journal of Gastroenterology 15(42): 5364-5367
Mazurová, S.; Tesařová, M.; Magner, M.; Houšťková, H.; Hansíková, H.; Augustínová, J.; Tomek, V.; Vondráčková, A.; Zeman, J.; Honzík, T. 2013: Novel mutations in the TAZ gene in patients with Barth syndrome. Prague Medical Report 114(3): 139-153
Porto, M.P.R.; Vergani, N.; Carvalho, A.C.C.; Cernach, M.C.S.P.; Brunoni, D.; Perez, A.B.A. 2010: Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. Genetics and Molecular Biology 33(2): 232-236
Blakely, E.; He, L.; Gardner, J.L.; Hudson, G.; Walter, J.; Hughes, I.; Turnbull, D.M.; Taylor, R.W. 2008: Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscular Disorders: Nmd 18(7): 557-560
Xu, Y.; Huang, L.; Li, J.; Zhang, Q.; Fei, P.; Zhu, X.; Tai, Z.; Ma, S.; Gong, B.; Li, Y.; Zang, W.; Zhu, X.; Zhao, P.; Yang, Z. 2014: Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. Molecular Vision 20: 1296-1306
Chen, Y.; Wang, Z.; Cheng, Y.; Tang, Y. 2013: Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis. Yonsei Medical Journal 54(4): 1053-1057
Aparisi, M.ía.J.é; García-García, G.; Jaijo, T.; Rodrigo, R.; Graziano, C.; Seri, M.; Simsek, T.; Simsek, E.; Bernal, S.; Baiget, M.; Pérez-Garrigues, H.; Aller, E.; Millán, J.é M.ía. 2010: Novel mutations in the USH1C gene in Usher syndrome patients. Molecular Vision 16: 2948-2954
Rusen, L.; Kavakli, K.; Korth-Bradley, J.; Huard, F.; Rendo, P.; Fuiman, J.; Baumann, J.A.; Smith, L.; Alvey, C.; Rupon, J. 2018: Clinical experience with moroctocog alfa (AF-CC) in younger paediatric patients with severe haemophilia A: two open-label studies. Haemophilia: the Official Journal of the World Federation of Hemophilia 24(4): 604-610
Liskova, P.; Tuft, S.J.; Gwilliam, R.; Ebenezer, N.D.; Jirsova, K.; Prescott, Q.; Martincova, R.; Pretorius, M.; Sinclair, N.; Boase, D.L.; Jeffrey, M.J.; Deloukas, P.; Hardcastle, A.J.; Filipec, M.; Bhattacharya, S.S. 2007: Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Human Mutation 28(6): 638
El Kadmiri, N.; Zaid, N.; Hachem, A.; Zaid, Y.; Dubé, M.-P.; Hamzi, K.; El Moutawakil, B.; Slassi, I.; Nadifi, S. 2014: Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. Journal of Molecular Neuroscience: Mn 53(2): 189-195
Garg, S.; Saxena, V.; Lumb, V.; Pakalapati, D.; Boopathi, P.A.; Subudhi, A.K.; Chowdhury, S.; Kochar, S.K.; Kochar, D.K.; Sharma, Y.D.; Das, A. 2012: Novel mutations in the antifolate drug resistance marker genes among Plasmodium vivax isolates exhibiting severe manifestations. Experimental Parasitology 132(4): 410-416
Olad Nabi, M.; Mirabzadeh, A.; Feizzadeh, G.; Khorram Khorshid, H.R.; Karimlou, M.; Zarif Yeganeh, M.; Asgharian, A.M.; Najmabadi, H.; Ohadi, M. 2010: Novel mutations in the calreticulin gene core promoter and coding sequence in schizoaffective disorder. American Journal of Medical Genetics. Part B Neuropsychiatric Genetics: the Official Publication of the International Society of Psychiatric Genetics 153b (2): 706-709
Hong, H-Mei.; Yang, J-Jou.; Shieh, J-Ching.; Lin, M-Ling.; Li, M-Ling.; Li, S-Yow. 2010: Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss. Human Genetics 127(5): 545-551
Yacoub, H.A.; Mahmoud, W.M.; El-Baz, H.A.E.-D.; Eid, O.M.; ELfayoumi, R.I.; Elhamidy, S.M.; Mahmoud, M.M. 2014: Novel mutations in the displacement loop of mitochondrial DNA are associated with acute lymphoblastic leukemia: a genetic sequencing study. Asian Pacific Journal of Cancer Prevention: Apjcp 15(21): 9283-9289
Fröhlich, B.A.; Zeitz, C.; Mátyás, G.; Alkadhi, H.; Tuor, C.; Berger, W.; Russi, E.W. 2008: Novel mutations in the folliculin gene associated with spontaneous pneumothorax. European Respiratory Journal 32(5): 1316-1320
Fiorillo, C.; Moro, F.; Astrea, G.; Morales, M.A.; Baldacci, J.; Marchese, M.; Scapolan, S.; Bruno, C.; Battini, R.; Santorelli, F.M. 2013: Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia. Neuromuscular Disorders: Nmd 23(12): 1010-1015
Muraoka, T.; Murao, K.; Imachi, H.; Kikuchi, F.; Yoshimoto, T.; Iwama, H.; Hosokawa, H.; Nishino, I.; Fukuda, T.; Sugie, H.; Adachi, K.; Nanba, E.; Ishida, T. 2011: Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type Ii (Pompe disease) with impaired intelligence. Internal Medicine 50(24): 2987-2991
Siebert, M.; Bock, H.; Michelin-Tirelli, K.; Coelho, J.C.; Giugliani, R.; Saraiva-Pereira, M.L. 2013: Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. Jimd Reports 9: 7-16
Ursitti, F.; Ulgiati, F.; Papetti, L.; Nicita, F.; Lovardi, E.; Vecchi, C.; Di Marino, V.; Bertola, F.; Spalice, A. 2014: Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia. Pediatric Neurology 51(2): E3-E4
Al-sbou, M. 2012: Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. Rheumatology International 32(6): 1741-1746
Nguyen, K.Vu.; Naviaux, R.K.; Paik, K.K.; Nyhan, W.L. 2011: Novel mutations in the human HPRT gene. Nucleosides Nucleotides and Nucleic Acids 30(6): 440-445
Nguyen, K.V.; Naviaux, R.K.; Patra, S.; Barshop, B.A.; Nyhan, W.L. 2011: Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Molecular Genetics and Metabolism 102(2): 218-221
Oh, S.T.; Simonds, E.F.; Jones, C.; Hale, M.B.; Goltsev, Y.; Gibbs, K.D.; Merker, J.D.; Zehnder, J.L.; Nolan, G.P.; Gotlib, J. 2010: Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood 116(6): 988-992
Wasif, N.; Naqvi, S.K.u.-H.; Basit, S.; Ali, N.; Ansar, M.; Ahmad, W. 2011: Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Human Genetics 129(4): 419-424
McGee, T.L.; Seyedahmadi, B.J.; Sweeney, M.O.; Dryja, T.P.; Berson, E.L. 2010: Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type Ii or non-syndromic retinitis pigmentosa. Journal of Medical Genetics 47(7): 499-506
Ranganath, P.; Sharma, V.; Danda, S.; Nandineni, M.R.; Dalal, A.B. 2012: Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India. Indian Journal of Medical Research 136(6): 1048-1050
Hashemzadeh Chaleshtori, M.; Simpson, M.A.; Farrokhi, E.; Dolati, M.; Hoghooghi Rad, L.; Amani Geshnigani, S.; Crosby, A.H. 2007: Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. Clinical Genetics 72(3): 261-263
Guernsey, D.L.; Dubé, M.-P.; Jiang, H.; Asselin, G.; Blowers, S.; Evans, S.; Ferguson, M.; Macgillivray, C.; Matsuoka, M.; Nightingale, M.; Rideout, A.; Delatycki, M.; Orr, A.; Ludman, M.; Dooley, J.; Riddell, C.; Samuels, M.E. 2010: Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. Journal of the Neurological Sciences 288(1-2): 79-87
Szentiványi, K.; Hansíková, H.; Krijt, J.; Vinšová, K.; Tesařová, M.; Rozsypalová, E.; Klement, P.; Zeman, J.; Honzík, T. 2012: Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency. Prague Medical Report 113(2): 136-146
Yuan, H.J.; Han, D.Y.; Sun, Q.; Yan, D.; Sun, H.J.; Tao, R.; Cheng, J.; Qin, W.; Angeli, S.; Ouyang, X.M.; Yang, S.Z.; Feng, L.; Cao, J.Y.; Feng, G.Y.; Wang, Y.F.; Dai, P.; Zhai, S.Q.; Yang, W.Y.; He, L.; Liu, X.Z. 2008: Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. Clinical Genetics 73(4): 391-394
Faruq, M.; Narang, A.; Kumari, R.; Pandey, R.; Garg, A.; Behari, M.; Dash, D.; Srivastava, A.K.; Mukerji, M. 2014: Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families. Clinical Genetics 86(4): 335-341
Zhang, J.; Qiu, S.-D.; Li, S.-B.; Zhou, D.-X.; Tian, H.; Huo, Y.-W.; Ge, L.; Zhang, Q.-Y. 2007: Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility. Asian Journal of Andrology 9(6): 809-814
Bisschoff, I.J.; Zeschnigk, C.; Horn, D.; Wellek, B.; Rieß, A.; Wessels, M.; Willems, P.; Jensen, P.; Busche, A.; Bekkebraten, J.; Chopra, M.; Hove, H.D.; Evers, C.; Heimdal, K.; Kaiser, A.-S.; Kunstmann, E.; Robinson, K.L.; Linné, M.; Martin, P.; McGrath, J.; Pradel, W.; Prescott, K.E.; Roesler, B.; Rudolf, G.; Siebers-Renelt, U.; Tyshchenko, N.; Wieczorek, D.; Wolff, G.; Dobyns, W.B.; Morris-Rosendahl, D.J. 2013: Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Human Mutation 34(1): 237-247
Lin, J.; Zhao, C.-B.; Lu, J.-H.; Wang, H.-J.; Zhu, W.-H.; Xi, J.-Y.; Lu, J.; Luo, S.-S.; Ma, D.; Wang, Y.; Xiao, B.-G.; Lu, C.-Z. 2014: Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS. Mitochondrial Dna 25(1): 56-62
Fasano, T.; Zanoni, P.; Rabacchi, C.; Pisciotta, L.; Favari, E.; Adorni, M.P.; Deegan, P.B.; Park, A.; Hlaing, T.; Feher, M.D.; Jones, B.; Uzak, A.S.; Kardas, F.; Dardis, A.; Sechi, A.; Bembi, B.; Minuz, P.; Bertolini, S.; Bernini, F.; Calandra, S. 2012: Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. Molecular Genetics and Metabolism 107(3): 534-541
Cui, Y.-X.; Xia, X.-Y.; Zhou, Y.; Gao, L.; Shang, X.-J.; Ni, T.; Wang, W.-P.; Fan, X.-B.; Yin, H.-L.; Jiang, S.-J.; Yao, B.; Hu, Y.-A.; Wang, G.; Li, X.-J. 2013: Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. Plos one 8(11): E79808
Cefalù, A.B.; Noto, D.; Magnolo, L.; Pinotti, E.; Gomaraschi, M.; Martini, S.; Vigna, G.B.; Calabresi, L.; Tarugi, P.; Averna, M.R. 2009: Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia. Atherosclerosis 204(1): 202-207
Birgani, S.A.; Salehi, Z.; Houshmand, M.; Mohamadi, M.J.; Promehr, L.A.; Mozafarzadeh, Z. 2009: Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. Molecular Vision 15: 373-377
Yang, L.; Wu, L.; Yin, X.; Chen, N.; Li, G.; Ma, Z. 2014: Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies. Molecular Vision 20: 359-367
Cui, N.; Xia, W.; Su, H.; Pang, L.; Jiang, Y.; Sun, Y.; Nie, M.; Xing, X.; Li, M.; Wang, O.; Yuan, T.; Chi, Y.; Hu, Y.; Liu, H.; Meng, X.; Zhou, X. 2012: Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients. Bone 51(3): 563-569
Suman, G.; Jamil, K.; Suseela, K.; Vamsy, M.C. 2009: Novel mutations of CYP3A4 in fine needle aspiration cytology samples of breast cancer patients and its clinical correlations. Cancer Biomarkers: Section a of Disease Markers 5(1): 33-40
Pei, Y.; Wang, Y.; Huang, W.; Hu, B.; Huang, D.; Zhou, Y.; Su, P. 2010: Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses. Genetic Testing and Molecular Biomarkers 14(6): 865-872
Qureshi, S.F.; Ali, A.; Ananthapur, V.; Jayakrishnan, M.P.; Calambur, N.; Thangaraj, K.; Nallari, P. 2013: Novel mutations of KCNQ1 in Long QT syndrome. Indian Heart Journal 65(5): 552-560
Lee, H.; Oh, S.Ho.; Koo, K-Yeon.; Suzuki, T.; Lee, J-Sung. 2014: Novel mutations of KIT gene in two Korean patients: variegated shades of phenotypes in tyrosine kinase 1 domain. Journal of Dermatological Science 76(1): 74-76
Rizel, L.; Safieh, C.; Shalev, S.A.; Mezer, E.; Jabaly-Habib, H.; Ben-Neriah, Z.; Chervinsky, E.; Briscoe, D.; Ben-Yosef, T. 2011: Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Molecular Vision 17: 3548-3555
Sun, L.; Cheng, L.; Dong, H.; Wang, B.; Huang, G.; Li, Z.; Xie, X.; Shen, A.; Li, X.; Wang, J.; Li, H.; Ma, X. 2012: Novel mutations of NODAL gene in Chinese patients with congenital heart disease. Genetic Testing and Molecular Biomarkers 16(4): 306-309
Parvaneh, N.; Teimourian, S.; Jacomelli, G.; Badalzadeh, M.; Bertelli, M.; Zakharova, E.; Tabatabaei, P.; Parvaneh, L.; Pourakbari, B.; Yeganeh, M.; Tamizifar, B.; Mamishi, S.; Micheli, V. 2008: Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency. Clinical Biochemistry 41(4-5): 350-352
Chen, H.; Jiang, L.; Xie, Z.; Mei, L.; He, C.; Hu, Z.; Xia, K.; Feng, Y. 2010: Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type i or type Ii Waardenburg syndrome. Biochemical and Biophysical Research Communications 397(1): 70-74
Obeidova, L.; Elisakova, V.; Stekrova, J.; Reiterova, J.; Merta, M.; Tesar, V.; Losan, F.; Kohoutova, M. 2014: Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. Bmc Medical Genetics 15: 41
Zeng, K.; Liu, Q.-c.; Lin, J.-h.; Lin, X.-h.; Zhuang, Z.-h.; Gao, F.; Ou, Q.-s. 2011: Novel mutations of PRSS1 gene in patients with pancreatic cancer among Han population. Chinese Medical Journal 124(13): 2065-2067
Yang, L.; Yin, X.; Feng, L.; You, D.; Wu, L.; Chen, N.; Li, A.; Li, G.; Ma, Z. 2014: Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation. Plos one 9(1): E85752
Yao, G.; Chen, D.; Wang, H.; Li, S.; Zhang, J.; Feng, Z.; Guo, L.; Yang, Z.; Yang, S.; Sun, C.; Zhang, X.; Ma, D. 2013: Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. Acta Oto-Laryngologica 133(8): 833-841
Conte, C.; D'Apice, M.R.; Rinaldi, F.; Gambardella, S.; Sangiuolo, F.; Novelli, G. 2011: Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. Bmc Medical Genetics 12: 125
Yang, J.; Liu, W.-l.; Hu, D.-y.; Zhu, T.-g.; Yang, S.-n.; Li, C.-l.; Li, L.; Sun, Y.-h.; Xie, W.-l.; Yang, J.-g.; Li, T.-c.; Bian, H.; Tong, Q.-g.; Xiao, J. 2011: Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy. Zhonghua Xin Xue Guan Bing Za Zhi 39(10): 909-914
Liao, W.-Q.; Pang, Y.; Yu, C.-A.; Wen, J.-Y.; Zhang, Y.-G.; Li, X.-H. 2008: Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population. Tohoku Journal of Experimental Medicine 215(4): 377-384
Shi, B.-J.; Feng, J.; Ma, C.-C.; Yan, X.-N.; Li, W.-B.; Wei, Y.-P.; Hu, G.; Wang, X.-L. 2009: Novel mutations of the ATP2A2 gene in two families with Darier's disease. Archives of Dermatological Research 301(1): 27-30
Miranda, D.M.; Wajchenberg, B.L.; Calsolari, M.R.; Aguiar, M.J.; Silva, J.é M.C.L.; Ribeiro, M.G.; Fonseca, C.; Amaral, D.; Boson, W.L.; Resende, B.A.; De Marco, L. 2009: Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. Clinical Endocrinology 71(4): 512-517
Tosetto, E.; Ceol, M.; Mezzabotta, F.; Ammenti, A.; Peruzzi, L.; Caruso, M.R.; Barbano, G.; Vezzoli, G.; Colussi, G.; Vergine, G.; Giordano, M.; Glorioso, N.; Degortes, S.; Soldati, L.; Sayer, J.; D'Angelo, A.; Anglani, F. 2009: Novel mutations of the CLCN5 gene including a complex allele and a 5' UTR mutation in Dent disease 1. Clinical Genetics 76(4): 413-416
Rostamiani, K.; Klauck, S.M.; Heiss, N.; Poustka, A.; Khaleghi, M.; Rosales, R.; Metzenberg, A.B. 2010: Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Blood Cells Molecules and Diseases 44(2): 88
Nakano, K.; Sakai, N.; Yamazaki, Y.; Watanabe, H.; Yamada, N.; Sezaki, K.; Susami, T.; Tokunaga, K.; Takato, T.; Uchinuma, E. 2007: Novel mutations of the HOXD13 gene in hand and foot malformations. International Surgery 92(5): 287-295
Koumaki, D.; Kostakis, G.; Koumaki, V.; Papadogeorgakis, N.; Makris, M.; Katoulis, A.; Kamakari, S.; Koutsodontis, G.; Perisanidis, C.; Lambadiari, V.; Chrysomali, E.; Stavrianeas, N.; Alexandridis, C.; Rigopoulos, D. 2012: Novel mutations of the HRAS gene and absence of hotspot mutations of the BRAF genes in oral squamous cell carcinoma in a Greek population. Oncology Reports 27(5): 1555-1560
Sakamoto, C.; Satou, R.; Tokuda, H.; Narita, S.-I. 2010: Novel mutations of the LolCDE complex causing outer membrane localization of lipoproteins despite their inner membrane-retention signals. Biochemical and Biophysical Research Communications 401(4): 586-591
Yüzbaşioğlu, A.şe.; Topçu, M.; Cetin Kocaefe, Y.; Ozgüç, M. 2011: Novel mutations of the MLC1 gene in Turkish patients. European Journal of Medical Genetics 54(3): 281-283
Yen, M.-Y.; Wang, A.-G.; Lin, Y.-C.; Fann, M.-J.; Hsiao, K.-J. 2010: Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. Ophthalmology 117(2): 392-6.E1
Alshammari, A.H.; Shalaby, M.A.; Alanazi, M.S.; Saeed, H.M. 2014: Novel mutations of the PARP-1 gene associated with colorectal cancer in the Saudi population. Asian Pacific Journal of Cancer Prevention: Apjcp 15(8): 3667-3673
Muhn, F.; Klopocki, E.; Graul-Neumann, L.; Uhrig, S.; Colley, A.; Castori, M.; Lankes, E.; Henn, W.; Gruber-Sedlmayr, U.; Seifert, W.; Horn, D. 2013: Novel mutations of the PRKAR1A gene in patients with acrodysostosis. Clinical Genetics 84(6): 531-538
Chen, J.; Xu, K.; Zhang, X.; Pan, Z.; Dong, B.; Li, Y. 2014: Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis. Molecular Vision 20: 132-139
Alimadadi, A.; Ebrahim-Habibi, A.; Abbasi, F.; Amoli, M.; Sayahpour, F-A.; Larijani, B. 2011: Novel mutations of wolframin: a report with a look at the protein structure. Clinical Genetics 79(1): 96-99
Bayat, N.; Farashi, S.; Hafezi-Nejad, N.; Faramarzi, N.; Ashki, M.; Vakili, S.; Imanian, H.; Khosravi, M.; Azar-Keivan, A.; Najmabadi, H. 2013: Novel mutations responsible for α-thalassemia in Iranian families. Hemoglobin 37(2): 148-159
Brzywczy, J.; Kacprzak, M.M.; Paszewski, A. 2011: Novel mutations reveal two important regions in Aspergillus nidulans transcriptional activator MetR. Fungal Genetics and Biology: Fg and B 48(2): 104-112
Imtiaz, F.; Al-Sayed, M.; Trabzuni, D.; Al-Mubarak, B.R.; Alsmadi, O.; Rashed, M.S.; Meyer, B.F. 2010: Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. Bmc Research Notes 3: 79
Lamont, P.J.; Wallefeld, W.; Hilton-Jones, D.; Udd, B.; Argov, Z.; Barboi, A.C.; Bonneman, C.; Boycott, K.M.; Bushby, K.; Connolly, A.M.; Davies, N.; Beggs, A.H.; Cox, G.F.; Dastgir, J.; DeChene, E.T.; Gooding, R.; Jungbluth, H.; Muelas, N.; Palmio, J.; Penttilä, S.; Schmedding, E.; Suominen, T.; Straub, V.; Staples, C.; Van den Bergh, P.Y.K.; Vilchez, J.J.; Wagner, K.R.; Wheeler, P.G.; Wraige, E.; Laing, N.G. 2014: Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Human Mutation 35(7): 868-879
Ahluwalia, D.; Bienstock, R.J.; Schaaper, R.M. 2012: Novel mutator mutants of E. coli nrdAB ribonucleotide reductase: insight into allosteric regulation and control of mutation rates. Dna Repair 11(5): 480-487
Kutukculer, N.; Gulez, N.; Karaca, N.Edeer.; Aksu, G.; Berdeli, A. 2012: Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency. Italian Journal of Pediatrics 38: 8
Sikorski, A.; Massaro, M.; Kraberger, S.; Young, L.M.; Smalley, D.; Martin, D.P.; Varsani, A. 2013: Novel myco-like DNA viruses discovered in the faecal matter of various animals. Virus Research 177(2): 209-216
Kuo, C.-J.; Bell, H.; Hsieh, C.-L.; Ptak, C.P.; Chang, Y.-F. 2012: Novel mycobacteria antigen 85 complex binding motif on fibronectin. Journal of Biological Chemistry 287(3): 1892-1902
Balcázar, J.é L.; Planas, M.; Pintado, J.é 2011: Novel mycobacterium species in seahorses with tail rot. Emerging Infectious Diseases 17(9): 1770-1772
Hamza, A.; Wagner, J.M.; Evans, T.J.; Frasinyuk, M.S.; Kwiatkowski, S.; Zhan, C.-G.; Watt, D.S.; Korotkov, K.V. 2014: Novel mycosin protease MycP₁ inhibitors identified by virtual screening and 4D fingerprints. Journal of Chemical Information and Modeling 54(4): 1166-1173
Podbielska, M.; Dasgupta, S.; Levery, S.B.; Tourtellotte, W.W.; Annuk, H.; Moran, A.P.; Hogan, E.L. 2010: Novel myelin penta- and hexa-acetyl-galactosyl-ceramides: structural characterization and immunoreactivity in cerebrospinal fluid. Journal of Lipid Research 51(6): 1394-1406
Huang, Y.; Chen, Y.-H.; Wang, Z.; Wang, W.; Ren, Q. 2014: Novel myeloid differentiation factor 88, EsMyD88, exhibits EsTube-binding activity in Chinese mitten crab Eriocheir sinensis. Developmental and Comparative Immunology 47(2): 298-308
Kanellopoulos, A.John. 2014: Novel myopic refractive correction with transepithelial very high-fluence collagen cross-linking applied in a customized pattern: early clinical results of a feasibility study. Clinical Ophthalmology 8: 697-702
Raheem, O.; Huovinen, S.; Suominen, T.; Haapasalo, H.; Udd, B. 2010: Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers. Acta Neuropathologica 119(4): 495-500
Jeter, C.B.; Patel, S.S.; Sereno, A.B. 2011: Novel n-back spatial working memory task using eye movement response. Behavior Research Methods 43(3): 879-887
Hribar, K.C.; Metter, R.B.; Burdick, J.A. 2009: Novel nano-composite biomaterials that respond to light. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference 2009: 2409-2411
Kon, E.; Delcogliano, M.; Filardo, G.; Altadonna, G.; Marcacci, M. 2009: Novel nano-composite multi-layered biomaterial for the treatment of multifocal degenerative cartilage lesions. Knee Surgery Sports Traumatology Arthroscopy: Official Journal of the Esska 17(11): 1312-1315
Rüttermann, S.; Wandrey, C.; Raab, W.H-M.; Janda, R. 2008: Novel nano-particles as fillers for an experimental resin-based restorative material. Acta Biomaterialia 4(6): 1846-1853
Balasundaram, G.; Storey, D.M.; Webster, T.J. 2014: Novel nano-rough polymers for cartilage tissue engineering. International Journal of Nanomedicine 9: 1845-1853
Eriksson, P.-O.; Aaltonen, E.; Petoral, R.; Lauritzson, P.; Miyazaki, H.; Pietras, K.; Månsson, S.; Hansson, L.; Leander, P.; Axelsson, O. 2014: Novel nano-sized MR contrast agent mediates strong tumor contrast enhancement in an oncogene-driven breast cancer model. Plos one 9(10): E107762
Dosio, F.; Reddy, L.H.; Ferrero, A.; Stella, B.; Cattel, L.; Couvreur, P. 2010: Novel nanoassemblies composed of squalenoyl-paclitaxel derivatives: synthesis, characterization, and biological evaluation. Bioconjugate Chemistry 21(7): 1349-1361
Campàs, M.òn.; Garibo, D.; Prieto-Simón, B. 2012: Novel nanobiotechnological concepts in electrochemical biosensors for the analysis of toxins. Analyst 137(5): 1055-1067
O'Connell, P.A.; McKenna, G.B. 2007: Novel nanobubble inflation method for determining the viscoelastic properties of ultrathin polymer films. Review of Scientific Instruments 78(1): 013901
Jung, J.-Y.; Oh, I.-K. 2007: Novel nanocomposite actuator based on sulfonated poly(styrene-b-ethylene-co-butylene-b-styrene) polymer. Journal of Nanoscience and Nanotechnology 7(11): 3740-3743
Mehdikhani-Nahrkhalaji, M.; Fathi, M.H.; Mortazavi, V.; Mousavi, S.B.; Hashemi-Beni, B.; Razavi, S.M. 2012: Novel nanocomposite coating for dental implant applications in vitro and in vivo evaluation. Journal of Materials Science. Materials in Medicine 23(2): 485-495
Martins, A.J.; Nunes, C.; Brites, M.J.; Prates, M.Lopes.; Teixeira, V.; Carvalho, M.J. 2009: Novel nanocomposite coatings with dispersed organic nanoparticles for solar absorbers. Journal of Nanoscience and Nanotechnology 9(6): 3401-3405
Hu, Z.; Chen, G. 2014: Novel nanocomposite hydrogels consisting of layered double hydroxide with ultrahigh tensibility and hierarchical porous structure at low inorganic content. Advanced Materials 26(34): 5950-5956
Lv, G.; He, F.; Wang, X.; Gao, F.; Zhang, G.; Wang, T.; Jiang, H.; Wu, C.; Guo, D.; Li, X.; Chen, B.; Gu, Z. 2008: Novel nanocomposite of nano fe(3)o(4) and polylactide nanofibers for application in drug uptake and induction of cell death of leukemia cancer cells. Langmuir: the Acs Journal of Surfaces and Colloids 24(5): 2151-2156
Samanta, S.K.; Gomathi, A.; Bhattacharya, S.; Rao, C.N.R. 2010: Novel nanocomposites made of boron nitride nanotubes and a physical gel. Langmuir: the Acs Journal of Surfaces and Colloids 26(14): 12230-12236
Jang, K.; Yoon, S.; Kim, S-Eun.; Cho, J-Youn.; Yoon, S.Hyun.; Lim, K.Soo.; Yu, K-Sang.; Jang, I-Jin.; Lee, H. 2014: Novel nanocrystal formulation of megestrol acetate has improved bioavailability compared with the conventional micronized formulation in the fasting state. Drug Design Development and Therapy 8: 851-858
Smith, D.K.; Rasch, M.R.; Korgel, B.A. 2007: Novel nanocrystals as a platinum-delivery vehicle for chemotherapy. Nanomedicine 2(6): 943-949
Bali, V.; Ali, M.; Ali, J. 2010: Novel nanoemulsion for minimizing variations in bioavailability of ezetimibe. Journal of Drug Targeting 18(7): 506-519
Wang, R.; Levi-Polyanchenko, N.; Morykwas, M.; Argenta, L.; Wagner, W.D. 2015: Novel nanofiber-based material for endovascular scaffolds. Journal of Biomedical Materials Research. Part a 103(3): 1150-1158
Moffat, K.L.; Kwei, A.S.-P.; Spalazzi, J.P.; Doty, S.B.; Levine, W.N.; Lu, H.H. 2009: Novel nanofiber-based scaffold for rotator cuff repair and augmentation. Tissue Engineering. Part a 15(1): 115-126
Akbari, A.; Sheshdeh, F.Jokari.; Jabbari, V. 2012: Novel nanofiberous membrane fabricated via electrospinning of wastage fuzzes of mechanized carpet used for dye removal of the carpet dyeing wastewater. Journal of Environmental Science and Health. Part A Toxic/Hazardous Substances and Environmental Engineering 47(6): 847-853
Sato, A.; Wang, R.; Ma, H.; Hsiao, B.S.; Chu, B. 2011: Novel nanofibrous scaffolds for water filtration with bacteria and virus removal capability. Journal of Electron Microscopy 60(3): 201-209
Valmikinathan, C.M.; Tian, J.; Wang, J.; Yu, X. 2008: Novel nanofibrous spiral scaffolds for neural tissue engineering. Journal of Neural Engineering 5(4): 422-432
Thong, Z.; Han, G.; Cui, Y.; Gao, J.; Chung, T.-S.; Chan, S.Y.; Wei, S. 2014: Novel nanofiltration membranes consisting of a sulfonated pentablock copolymer rejection layer for heavy metal removal. Environmental Science and Technology 48(23): 13880-13887
Li, N.; Wang, J.; Yang, X.; Li, L. 2011: Novel nanogels as drug delivery systems for poorly soluble anticancer drugs. Colloids and Surfaces. B Biointerfaces 83(2): 237-244
Tsoufis, T.; Tomou, A.; Gournis, D.; Douvalis, A.P.; Panagiotopoulos, I.; Kooi, B.; Georgakilas, V.; Arfaoui, I.; Bakas, T. 2008: Novel nanohybrids derived from the attachment of FePt nanoparticles on carbon nanotubes. Journal of Nanoscience and Nanotechnology 8(11): 5942-5951
Kianfar, A.H.; Mahmood, W.A.K.; Dinari, M.; Azarian, M.H.; Khafri, F.Z. 2014: Novel nanohybrids of cobalt(III) Schiff base complexes and clay: synthesis and structural determinations. Spectrochimica Acta. Part a Molecular and Biomolecular Spectroscopy 127: 422-428
Su, H-Lin.; Lin, S-Hong.; Wei, J-Chiou.; Pao, I-Chuan.; Chiao, S-Her.; Huang, C-Chen.; Lin, S-Zong.; Lin, J-Jen. 2011: Novel nanohybrids of silver particles on clay platelets for inhibiting silver-resistant bacteria. Plos one 6(6): E21125
Ünlüer, Öz.B.çe.; Ersöz, A.; Say, R.; Tomsuk, Öz.; Sivas, H.ül. 2013: Novel nanoimaging approach: antibodious polymeric nanolabel for intracellular alpha-fetoprotein targeted monitoring. Biotechnology Progress 29(2): 472-479
Li, L.; Xu, L.; Li, Z.; Bai, Y.; Liu, H. 2014: Novel nanomaterials used for sample preparation for protein analysis. Analytical and Bioanalytical Chemistry 406(1): 35-47
Mody, V.V.; Nounou, M.I.; Bikram, M. 2009: Novel nanomedicine-based MRi contrast agents for gynecological malignancies. Advanced Drug Delivery Reviews 61(10): 795-807
Zhou, J.; Sui, F.; Yao, M.; Wang, Y.; Liu, Y.; Tian, F.; Li, Q.; He, X.; Shao, L.; Liu, Z. 2013: Novel nanometer scaffolds regulate the biological behaviors of neural stem cells. Neural Regeneration Research 8(16): 1455-1464
Grädler, U.; Fuchss, T.; Ulrich, W.-R.üd.; Boer, R.; Strub, A.; Hesslinger, C.; Anézo, C.él.; Diederichs, K.; Zaliani, A. 2011: Novel nanomolar imidazo[4,5-b]pyridines as selective nitric oxide synthase (iNOS) inhibitors: SAR and structural insights. Bioorganic and Medicinal Chemistry Letters 21(14): 4228-4232
Heseltine, P. 2013: Novel nanoparticle-based method for rapid screening of blood clotting. Nanomedicine 8(12): 1905-1907
Bharali, D.J.; Pradhan, V.; Elkin, G.; Qi, W.; Hutson, A.; Mousa, S.A.; Thanavala, Y. 2008: Novel nanoparticles for the delivery of recombinant hepatitis B vaccine. Nanomedicine: Nanotechnology Biology and Medicine 4(4): 311-317
Chiang, P-Chang.; Deng, Y.; Ubhayaka, S.; La, H.; Cui, Y.; Chou, K-Jye.; Ran, Y.; Wong, H. 2012: Novel nanoparticles formulation for cassette dosing via intravenous injection in rats for high throughput pharmacokinetic screening and potential applications. Journal of Nanoscience and Nanotechnology 12(10): 7993-8000
Deng, X.; Xu, X.; Lai, Y.; He, B.; Gu, Z. 2013: Novel nanoparticles generated by polymeric amphiphiles with pi-pi conjugated small molecules for anti-tumor drug delivery. Journal of Biomedical Nanotechnology 9(8): 1336-1344
Ghera, B.Bertino.; Perret, F.; Chevalier, Y.; Parrot-Lopez, Hélène. 2009: Novel nanoparticles made from amphiphilic perfluoroalkyl alpha-cyclodextrin derivatives: preparation, characterization and application to the transport of acyclovir. International Journal of Pharmaceutics 375(1-2): 155-162
Stanwix, H. 2014: Novel nanoparticles possess triple threat. Research design nanosystems capable of carrying and releasing multiple therapeutic agents. Therapeutic Delivery 5(6): 615-616
Boddu, S.H.S.; Jwala, J.; Vaishya, R.; Earla, R.; Karla, P.K.; Pal, D.; Mitra, A.K. 2010: Novel nanoparticulate gel formulations of steroids for the treatment of macular edema. Journal of Ocular Pharmacology and Therapeutics: the Official Journal of the Association for Ocular Pharmacology and Therapeutics 26(1): 37-48
Perim, E.; Galvao, D.S. 2014: Novel nanoscroll structures from carbon nitride layers. Chemphyschem: a European Journal of Chemical Physics and Physical Chemistry 15(11): 2367-2371
Keren, A.; David, M.; Gilhar, A. 2014: Novel nanosome delivery system combined with siRNA targeting the antimicrobial gene DFB4: a new approach for psoriasis management?. Experimental Dermatology 23(7): 464-465
Nawalany, K.; Rusin, A.; Kepczynski, M.; Filipczak, P.; Kumorek, M.; Kozik, B.ło.; Weitman, H.; Ehrenberg, B.; Krawczyk, Z.ła.; Nowakowska, M. 2012: Novel nanostructural photosensitizers for photodynamic therapy: in vitro studies. International Journal of Pharmaceutics 430(1-2): 129-140
Mallakpour, S.; Dinari, M. 2012: Novel nanostructure amino acid-based poly(amide-imide)s enclosing benzimidazole pendant group in green medium: fabrication and characterization. Amino Acids 43(4): 1605-1613
Hossein Habibi, M.; Askari, E.; Habibi, M.; Zendehdel, M. 2013: Novel nanostructure zinc zirconate, zinc oxide or zirconium oxide pastes coated on fluorine doped tin oxide thin film as photoelectrochemical working electrodes for dye-sensitized solar cell. Spectrochimica Acta. Part a Molecular and Biomolecular Spectroscopy 104: 197-202
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