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20 积分 2025-03-19 加入
Molecular genetics of dystrophinopathy
11小时前
求助中
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
11小时前
已完结
Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing
11小时前
已完结
Muenke syndrome: An international multicenter natural history study
3天前
已完结
DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians
3个月前
已完结
Analysis of complex structural variants in the DMD gene in one family
4个月前
已完结
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
5个月前
已关闭
Genetics of short stature
5个月前
已完结
[Clinical features and variant spectrum of FGFR3-related disorders]
5个月前
已关闭
A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review
5个月前
已完结
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