Lv52
1070 积分 2025-04-29 加入
Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia
35分钟前
已完结
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation
4天前
已完结
Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations
14天前
已完结
[Analysis of 12 cases with methylmalonicacidemia cblA type]
1个月前
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
1个月前
已关闭
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
1个月前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
1个月前
已完结
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese
2个月前
已完结
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review
2个月前
已完结
Fetal-onset IPEX: report of two families and review of literature
2个月前
已完结
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