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80 积分 2023-11-30 加入
FSIP2 plays a role in the acrosome development during spermiogenesis
5天前
已完结
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
6天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2个月前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
2个月前
已完结
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype
4个月前
已完结
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction
4个月前
已完结
Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome
7个月前
已完结
First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants
7个月前
已完结
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