Lv21
172 积分 2024-11-14 加入
Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing
2小时前
待确认
Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort
1个月前
已完结
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
1个月前
已完结
Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1
1个月前
已完结
Revertant Mosaic Skin Punch Grafting in Recessive Dystrophic Epidermolysis Bullosa
1个月前
已完结
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
1个月前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
1个月前
已关闭
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
2个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
3个月前
已完结
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