Lv2
198 积分 2024-11-14 加入
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
1个月前
已完结
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
1个月前
已关闭
Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort
2个月前
已完结
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
2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
2个月前
已完结
Revertant Mosaic Skin Punch Grafting in Recessive Dystrophic Epidermolysis Bullosa
3个月前
已完结
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
3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
3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
3个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
3个月前
已完结
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