Lv44
800 积分 2025-05-09 加入
A study of Wilson disease mutations in Britain
4天前
已关闭
ATP7B variant spectrum in a French pediatric Wilson disease cohort
4天前
已完结
Mutation analysis of Taiwanese Wilson disease patients
4天前
已关闭
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
6天前
已完结
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
6天前
已完结
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations
6天前
已完结
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients
6天前
已完结
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
6天前
已完结
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
7天前
已完结
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma
7天前
已完结
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