Lv43
710 积分 2025-05-09 加入
Association of ACTN4 Gene Mutation with Primary Nephrotic Syndrome in Children in Guangxi Autonomous Region, China
15小时前
已完结
Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations
23小时前
已完结
Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India
23小时前
已完结
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient
12天前
已完结
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
12天前
已完结
Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this Cystic Fibrosis Transmembrane Conductance Regulator mutation does not cause cystic fibrosis
28天前
已完结
Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
28天前
已完结
Hematologically important mutations: Gaucher disease
28天前
已完结
Mutation screening of the TSHR gene in 220 Chinese patients with congenital hypothyroidism
1个月前
已完结
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20
1个月前
已完结
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