Lv4
506 积分 2022-01-12 加入
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
15天前
已完结
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
28天前
已完结
ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time
1个月前
已完结
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
1个月前
已完结
Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta
1个月前
已完结
Expanding the phenotypic spectrum associated with mutations of DYNC1H1
1个月前
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
1个月前
已完结
Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature
1个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
3个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
3个月前
已完结
Mutational landscape of patients with acute promyelocytic leukemia at diagnosis and relapse
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