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10 积分 2026-01-22 加入
Mutational and clinical spectrum of myofibrillar myopathy in one center from China
6天前
已完结
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing
2个月前
已完结
Identification of a De novo pathogenic missense variant (c.559G>A) in CASZ1 associated with dilated cardiomyopathy
2个月前
已完结
[Molecular Pathogenic Mechanism Study of Two Cases of Inherited Dysfibrinogenemia]
3个月前
已完结
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family
3个月前
已完结
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