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48 积分 2024-02-07 加入
Haplotype‐based non‐invasive prenatal diagnosis of recessive dystrophic epidermolysis bullosa via targeted capture sequencing of maternal plasma
2天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
2天前
已关闭
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients
2天前
已完结
Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells
5天前
已完结
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients
12天前
已完结
Next-generation sequencing identifies potential novel therapeutic targets in Chinese HGSOC patients
13天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
15天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
15天前
已完结
Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients
15天前
已完结
Disease severity of people with cystic fibrosis carrying residual function mutations: Data from the ECFS Patient Registry
19天前
已完结
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