Lv12
50 积分 2024-08-07 加入
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
1小时前
待确认
[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease]
1天前
已完结
[Mutation analysis of a Chinese family with inherited long QT syndrome]
1个月前
已关闭
ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease
1个月前
已完结
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review
1个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
3个月前
已完结
[Gene mutation and clinical characteristics of a Chinese Uygur family with spinocerebellar ataxia type 12]
3个月前
已关闭
Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development
4个月前
已关闭
Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy
4个月前
已完结
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities
5个月前
已完结
皖公网安备34019202002308
