Lv1
30 积分 2023-05-22 加入
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort
1天前
待确认
cblC型甲基丙二酸血症患儿MMACHC基因常见变异位点地域分布分析
3天前
已完结
Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients
28天前
已完结
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations
1个月前
已完结
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia
1个月前
已完结
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease
1个月前
已完结
The N-terminus of MTRR plays a role in MTR reactivation cycle beyond electron transfer
1个月前
已完结
Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease
1个月前
已完结
Gene mutations and clinical features of pediatric sitosterolemia
2个月前
已完结
Hemizygous Fabry disease associated with membranous nephropathy: A rare case repor
2个月前
已完结
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