Lv1
30 积分 2023-11-24 加入
von Willebrand factor variants in C3 glomerulopathy: A Chinese cohort study
11小时前
已完结
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients
12小时前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
13天前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
14天前
已完结
Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD
25天前
已关闭
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation
25天前
已完结
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy
26天前
已完结
Chilren with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronopthisis
27天前
已完结
Two novel mutations in the cystathionine β-synthase gene of homocystinuric patients*
1个月前
已完结
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy
1个月前
已完结
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