Lv2
126 积分 2023-09-12 加入
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A
12小时前
已完结
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome
3天前
已关闭
Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism
20天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
24天前
已完结
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
25天前
已完结
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
25天前
已完结
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome
1个月前
已完结
Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy
1个月前
已完结
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study
1个月前
已完结
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