Lv5
1440 积分 2025-02-27 加入
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human
2天前
已完结
A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome
2天前
求助中
Adult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease
2天前
已完结
[Thymidine kinase 2 gene compound heterozygous mutation leads to mitochondrial DNA depletion syndrome-2:a case report]
4天前
已完结
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
4天前
已完结
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen‐sensing pathway from primary familial and congenital polycythaemia
6天前
已完结
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing
7天前
已完结
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States
9天前
已完结
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I – Study from South India
9天前
已完结
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis
10天前
已关闭
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