Lv2
130 积分 2022-03-31 加入
Genetic investigation of syndromic forms of obesity
4天前
已完结
PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY
12天前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
20天前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
23天前
已完结
[A novel KCNQ1 mutation in Chinese with congenital long QT syndrome]
24天前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
25天前
已完结
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome
26天前
已完结
Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta
27天前
已完结
Sudden death associated with syndromic craniosynostosis
1个月前
已完结
Haploinsufficiency of NSD1 causes Sotos syndrome
1个月前
已完结
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