Lv5
830 积分 2023-08-09 加入
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
12小时前
已完结
Extremely mild dominant dystrophic epidermolysis bullosa: Genotype information from whole‐exome sequencing of salivary gDNA predicts disease severity
12小时前
待确认
Improved sensitivity for detection of pathogenic variants in familialNF2-related schwannomatosis
1天前
已完结
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy
11天前
已完结
A global perspective on research advances and future challenges in Friedreich ataxia
12天前
已关闭
Insight into the early pathogenesis and therapeutic strategies of spinocerebellar ataxia type 3/machado–joseph disease from mouse models
12天前
已完结
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
12天前
已完结
Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics
2个月前
已关闭
The pathogenesis of Parkinson's disease
2个月前
已完结
房颤合并稳定型冠心病的治疗：长期单一抗凝还是联合抗血小板？
1年前
已采纳
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