Lv3
330 积分 2023-01-10 加入
Amyloid-RelatedImagingAbnormalitiesandβ-Amyloid-TargetingAntibodies:ASystematicReview
25天前
已完结
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients
30天前
已完结
Understanding pathophysiology of GNE myopathy and current progress towards drug development
1个月前
已完结
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy
1个月前
已完结
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
1个月前
已完结
Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia
2个月前
已完结
Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants
2个月前
已完结
Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
3个月前
已完结
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
7个月前
已完结
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
7个月前
已完结
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