Lv3
376 积分 2022-01-12 加入
ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time
9天前
已完结
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
9天前
已完结
Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta
16天前
已完结
Expanding the phenotypic spectrum associated with mutations of DYNC1H1
17天前
已完结
淄博地区223 368例新生儿遗传代谢病串联质谱法筛查结果分析
19天前
已完结
Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature
27天前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
2个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
2个月前
已完结
Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family
3个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
3个月前
已完结
Mutational landscape of patients with acute promyelocytic leukemia at diagnosis and relapse
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