Lv51
1115 积分 2021-01-13 加入
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I
4天前
已完结
Exploring genotype–phenotype correlations in glutaric aciduria type 1
4天前
已完结
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
4天前
已完结
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis
6天前
已完结
Whole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy
6天前
已完结
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity
12天前
已完结
Functional studies of human skin disease- and deafness-associated connexin 30 mutations
12天前
已完结
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia
12天前
已完结
Mutations in GJB6 cause hidrotic ectodermal dysplasia
13天前
已完结
Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients
25天前
已完结
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