Lv11
30 积分 2023-11-22 加入
A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy
1小时前
求助中
[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II]
13天前
已完结
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
17天前
已完结
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome
1个月前
已完结
[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia]
1个月前
已完结
Analysis of clinical characteristics and gene mutations of megalencephalic leukoencephalopathy with subcortical cysts in a family
1个月前
已完结
Analysis of the features of neurofibromatosis type 1 in the Republic of Bashkortostan
1个月前
已关闭
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene
1个月前
已完结
[Gene mutation analysis in patients with propionic acidemia]
1个月前
已完结
Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma
2个月前
已完结
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