Lv4
470 积分 2023-06-20 加入
Novel loss-of-function SPAG17 homozygous variant segregated in a family with severe asthenozoospermia: upgrading gene-disease validity to strong
14天前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
14天前
已完结
Mutational analysis of ATP7B in north Chinese patients with Wilson disease
20天前
已完结
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability
1个月前
已完结
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis
1个月前
已完结
Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects
1个月前
已完结
Paralogous annotation of disease-causing variants in long QT syndrome genes
1个月前
已完结
Gene symbol: SCN5A
1个月前
已关闭
Single amino acid substitutions in conserved extracellular domains of E-cadherin differ in their functional consequences
1个月前
已完结
A case report of classic galactosemia with a GALT gene variant and a literature review
1个月前
已完结
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