Lv3
280 积分 2025-07-09 加入
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations
7天前
已关闭
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
13天前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
14天前
已完结
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
22天前
已完结
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease
27天前
已关闭
Newborn screening for Krabbe disease in New York State: the first eight years' experience
27天前
已完结
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States
28天前
已完结
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States
28天前
已完结
Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies
1个月前
已完结
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
1个月前
已完结
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