Lv4
430 积分 2021-12-20 加入
A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family
13天前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
1个月前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
1个月前
已完结
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
1个月前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
1个月前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
1个月前
已关闭
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
1个月前
已关闭
Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity
1个月前
已完结
Use of factor IX concentrates in active teenagers with hemophilia B
1个月前
已关闭
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
2个月前
已关闭
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