Lv5
1190 积分 2023-08-09 加入
Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness
8天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
10天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
10天前
已完结
Prevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis
12天前
已完结
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families
17天前
已完结
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant
20天前
已完结
Novel founder variant in the S-antigen visual arrestin geneSAGis the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese
23天前
已关闭
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
25天前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
25天前
已完结
3-M syndrome: evolution of the phenotype over time
30天前
已完结
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