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20 积分 2026-01-22 加入
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing
14天前
已完结
Identification of a De novo pathogenic missense variant (c.559G>A) in CASZ1 associated with dilated cardiomyopathy
16天前
已完结
[Molecular Pathogenic Mechanism Study of Two Cases of Inherited Dysfibrinogenemia]
29天前
已完结
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family
1个月前
已完结
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