Lv2
150 积分 2024-06-19 加入
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
5天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
5天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
5天前
已完结
Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL
1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
1个月前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
1个月前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
2个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
2个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
3个月前
已关闭
[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China]
3个月前
已关闭
皖公网安备34019202002308
