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864 积分 2025-07-18 加入
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
4小时前
已完结
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
15天前
已完结
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory
15天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
16天前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
18天前
已完结
Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome
20天前
已完结
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review
20天前
已完结
Landscape of DNA damage response gene alterations in breast cancer: A comprehensive investigation
21天前
已完结
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
1个月前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
1个月前
已完结
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