Lv54
880 积分 2025-04-29 加入
[Analysis of 12 cases with methylmalonicacidemia cblA type]
5天前
已完结
Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH
5天前
已关闭
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
11天前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
11天前
已完结
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese
29天前
已完结
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review
1个月前
已完结
Fetal-onset IPEX: report of two families and review of literature
1个月前
已完结
Progressive Generalized Skin Laxity in a Young Woman
1个月前
已完结
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3
1个月前
已完结
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