Lv6
2140 积分 2022-10-18 加入
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy
11天前
已完结
Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency
13天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
14天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
14天前
已完结
Spectrum of mutations in Gitelman syndrome
20天前
已关闭
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study
1个月前
已完结
No evidence of an association between tyrosine hydroxylase gene polymorphisms and suicide victims
1个月前
已关闭
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
1个月前
已完结
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia
2个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
2个月前
已完结
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