Lv6
2090 积分 2024-08-19 加入
Mechanisms of congenital hearing loss caused by GJB2 gene mutations and current progress in gene therapy
12天前
已完结
AAV gene therapy for autosomal recessive deafness 9: a single-arm trial
5个月前
已完结
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin
5个月前
已完结
AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial
5个月前
已完结
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report
7个月前
已完结
Extracting and calibrating evidence of variant pathogenicity from population biobank data
7个月前
已完结
Genetics First Approach: Expanding the Utility of Genetic Testing by Non-Geneticist Physicians
8个月前
已关闭
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
9个月前
已完结
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
9个月前
已完结