Lv2
120 积分 2024-06-19 加入
Combined Optic Atrophy and Rod–Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype
17天前
已完结
Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens
17天前
已完结
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL
3个月前
已关闭
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
3个月前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
3个月前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
3个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
3个月前
已完结
皖公网安备34019202002308
