Lv1
80 积分 2024-10-16 加入
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
14天前
已完结
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
14天前
已关闭
Mild defects in follicular development and reproductive performance in the heterozygous Hfm1 female mouse
20天前
已关闭
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
27天前
已完结
[A novel lamin A/C mutation in a family with dilated cardiomyopathy and a strong history of sudden cardiac death]
29天前
已关闭
Pathogenic Variant VWF-Cys2750Phe in CK Domain Caused Type 2A VWD by Impairing VWF Multimerization and Secretion
1个月前
已完结
High incidence of intracranial haemorrhage in Egyptian children with congenital afibrinogenaemia
1个月前
已完结
A Case of Primary Renal Glycosuria in a Pediatric Patient with Genetic Mutation Analysis
1个月前
已完结
A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1
2个月前
已完结
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene
2个月前
已完结
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