Lv11
46 积分 2021-11-22 加入
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
4小时前
待确认
The HNF1B score is a simple tool to select patients for HNF1B gene analysis
6天前
已关闭
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays
7天前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
12天前
已完结
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study
14天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
16天前
已完结
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
20天前
已完结
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
24天前
已关闭
Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males
1个月前
已完结
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