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Exclusion of PTPN11 mutations in Costello syndrome: Further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes. Clinical Genetics 63(5): 423-426, 2003
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. Neuroscience 164(1): 257-271, 2010
Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case. American Journal of Medical Genetics. Part a 143a(1): 85-88, 2007
On a case of Turner's syndrome with Corvisart-Fallot syndrome, in isolated dextrocardia. Considerations on cardiac malformations in Turner's syndrome. Minerva Medica 56(87): 3699-3704, 1965
A case of Turner's syndrome in a girl with diabetes with karyotype XX and the presence of cells XXq. Endokrynologia Polska 19(1): 33-38, 1968
Case of the month: A girl with Ullrich-Turner syndrome, nephrolithiasis and hypercalcaemia. European Journal of Pediatrics 155(7): 615-616, 1996
Costello syndrome: the natural history of a true postnatal growth retardation syndrome. Genetic Counseling 6(2): 121-125, 1995
A case of gonadal dysgenesis with Turner's syndrome, in an 8-year-old girl, and its actual diagnosis. Revista Clinica Espanola 74: 391-394, 1959
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Growth hormone therapy in a girl with Turner syndrome and diabetes type 1 - case report. Pediatric Endocrinology Diabetes and Metabolism 20(2): 75-81, 2015
Case of ovarian agenesis (Turner-Albright syndrome); 44-year-old Turner syndrome patient, genetically female, detected by reason of a goiter. Bulletin de la Societe des Sciences Medicales du Grand-Duche de Luxembourg 65: 15-28, 1958
Gastric fibroid polyp in a 4-month-old girl with Costello syndrome. La Pediatria Medica e Chirurgica 29(5): 267-269, 2008
Turner's syndrome and minor brain dysfunction. Neuropsychiatric case report on a 5 and a half year old girl. Neuropadiatrie 5(1): 49-55, 1974
A case of Turner syndrome with schizophrenia: Genetic relationship between Turner syndrome and psychosis. Psychiatry and Clinical Neurosciences 51(2): 83-85, 1997