Lv7
4970 积分 2021-07-09 加入
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome
8天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
1个月前
已完结
Initial report from the Hunter Outcome Survey
1个月前
已完结
Evaluation of cardiac findings in mucopolysaccharidosis
1个月前
已完结
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
1个月前
已关闭
Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease
1个月前
已完结
DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella
1个月前
已完结
Genetics of hypertrophic cardiomyopathy in Norway
3个月前
已完结
Genetic and clinical heterogeneity of ferroportin disease
3个月前
已完结
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
4个月前
已完结
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