Lv11
40 积分 2024-12-23 加入
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
21分钟前
求助中
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
33分钟前
已完结
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
59分钟前
已完结
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
1小时前
已完结
Molecular Genetic Analysis of Newborns with Congenital Microcephaly
7天前
已完结
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non‐Finnish European, Finnish, and Ashkenazi Jewish populations
8天前
已完结
The mutational spectrum of the HPRT gene from human T cells in vivo shares a significant concordant set of hot spots with MNNG-treated human cells
15天前
已完结
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome
16天前
已完结
Genetics of MDH in humans
17天前
已完结
Physiology of malate dehydrogenase and how dysregulation leads to disease
17天前
已完结
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