Lv31
360 积分 2024-10-28 加入
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype
4小时前
求助中
[A novel mutation of the PAX6 gene in a Chinese family with aniridia]
7小时前
已关闭
The revised Ghent nosology for the Marfan syndrome: Table 1
1天前
已完结
De novo mutation in the Notch3 gene causing CADASIL
3天前
已完结
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
7天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
7天前
已完结
An Updated Classification of Primary Lymphedema Based on Age of Onset, Lymphatic Anomalies, and Genetics
8天前
已关闭
Rare Variants in LAMA5 Gene associated with FLT4 and FOXC2 Mutations in Primary Lymphedema May Contribute to Severity
8天前
已完结
Estimating the prevalence of LAMA2 congenital muscular dystrophy using population genetic databases
8天前
已关闭
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects
9天前
已完结
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