Lv5
980 积分 2023-09-12 加入
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
1天前
已关闭
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH
4天前
已完结
[Hyperglycemia caused by mutation of GCK gene in 10 patients analysis of clinical and mutation characteristics]
23天前
已完结
AFBN1 gene in patients with Marfan syndrome
29天前
已关闭
Prevalence and Clinical Characteristics of Fabry Disease in Chinese Patients With Hypertrophic Cardiomyopathy
1个月前
已完结
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia
1个月前
已关闭
[The Familial Hypercholesterolemia Caused by a Novel Human Low Density Lipoprotein Receptor Gene Mutation c.1327 T>C (p.W433R)]
1个月前
已关闭
[Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.]
1个月前
已关闭
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review
2个月前
已完结
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