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Homozygous and compound heterozygous mutations at the Werner syndrome locus. Human Molecular Genetics. 5(12): -1913, 1996
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A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations. Journal of the American Academy of Dermatology 69(1): E29-E32, 2013
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Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain 137(Pt 10): E301-E301, 2014
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations. Pediatric Nephrology 29(3): 481-485, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. American Journal of Human Genetics 95(6): 763-770, 2015
Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Molecular Genetics and Metabolism 75(4): 308-316, 2002
Whole Genome Sequence Accuracy Is Improved by Replication in a Population of Mutagenized Sorghum. G3, 2018
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). Klinische Padiatrie 222(3): 168-174, 2010
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Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain 137(Pt 10): E302-E302, 2014