Lv11
26 积分 2024-05-31 加入
Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking
3小时前
已完结
Resolving misalignment interference for NGS-based clinical diagnostics
2天前
已完结
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
5天前
已完结
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
5天前
已完结
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype
5天前
已完结
COL4A3 mutations cause focal segmental glomerulosclerosis
8天前
已完结
Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing
8天前
已完结
Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in <b><i>SCNN1A</i></b>and <b><i>SCNN1B</i></b>Genes
14天前
已关闭
The first identified heterozygous nonsense mutations in podocalyxin offer new perspectives on the biology of podocytopathies
15天前
已完结
The genetic diversity of cystinuria in a UK population of patients
15天前
已完结
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