Lv1
8 积分 2024-05-31 加入
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
3小时前
待确认
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
5天前
已完结
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3
10天前
已完结
Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene
10天前
已完结
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort
12天前
已完结
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
12天前
已完结
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
14天前
已完结
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report
14天前
已完结
补体在高血压肾病发生发展中的作用
20天前
已完结
Immune Mechanisms in Hypertension
20天前
已完结
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