Lv4
450 积分 2025-02-27 加入
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease
9天前
已完结
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder
4个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
5个月前
已完结
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
5个月前
已完结
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder
5个月前
已完结
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
5个月前
已完结
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