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4 积分 2021-08-31 加入
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies
7小时前
已完结
[Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease]
28天前
已完结
Targeted gene capture sequencing in diagnosis of dystonia patients
1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
1个月前
已完结
The abnormal C-terminus in DVL1 impacts Robinow Syndrome phenotypes
1个月前
已关闭
Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients
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
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
2个月前
已完结
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations
2个月前
已完结
Late‐onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation
3个月前
已完结
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