Lv4
480 积分 2024-05-27 加入
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome
2小时前
已完结
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing
17天前
已完结
Intronic variants impacting SLC12A1 gene splicing in Bartter syndrome type 1: Characterization of a novel deep intronic variant via Whole-genome sequencing and minigene analysis
17天前
已完结
Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes
20天前
已完结
Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes
20天前
已完结
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type
21天前
已完结
Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects
21天前
已完结
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
21天前
已完结
Classical Ehlers-Danlos Syndrome
21天前
已完结
Molecular genetics in classic Ehlers–Danlos syndrome
21天前
已完结
皖公网安备34019202002308