Associated Papers
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648
Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.
Kalideen K et al.
Journal of Personalized Medicine, 2024
38541065 (PubMed )
Supplement: jpm-14-00323-s001.zip › jpm-2900250-supplementary.pdf
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Evaluation of exome sequencing variation in undiagnosed ataxias.
Sandford E et al.
Brain : a Journal of Neurology, 2015
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A et al.
Brain : a Journal of Neurology, 2015
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies.
Nguyen KD et al.
Circulation Research, 2013
Variations in the WNK1 gene modulates the effect of dietary intake of sodium and potassium on blood pressure determination.
Osada Y et al.
Journal of Human Genetics, 2009
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