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90 积分 2023-05-12 加入
Gitelman's syndrome: report of one case
1天前
求助中
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
1天前
求助中
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
1天前
已完结
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity
19天前
已完结
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain
20天前
已完结
Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A
1个月前
已完结
Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene
1个月前
已完结
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]
1个月前
已完结
WITHDRAWN: Clinical and molecular analysis of six novel GALC mutations identified in 7 Chinese children with Krabbe disease
1个月前
已完结
Detection of rare mutations in the dystrophin gene
3个月前
已关闭
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