Lv1
32 积分 2021-08-31 加入
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
16天前
已完结
Genetic and clinical analysis of Chinese pediatric patients with cystinuria
24天前
已完结
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
29天前
已完结
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies
1个月前
已完结
[Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease]
2个月前
已完结
Targeted gene capture sequencing in diagnosis of dystonia patients
2个月前
已完结
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
3个月前
已完结
The abnormal C-terminus in DVL1 impacts Robinow Syndrome phenotypes
3个月前
已关闭
Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients
3个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
3个月前
已完结
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