Lv51
890 积分 2023-08-09 加入
Clinical and genetic characterization of CACNA1A‐related disease
26天前
已完结
Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy
27天前
已完结
Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders
27天前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
1个月前
已完结
Extremely mild dominant dystrophic epidermolysis bullosa: Genotype information from whole‐exome sequencing of salivary gDNA predicts disease severity
1个月前
已完结
Improved sensitivity for detection of pathogenic variants in familialNF2-related schwannomatosis
1个月前
已完结
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy
1个月前
已完结
A global perspective on research advances and future challenges in Friedreich ataxia
1个月前
已关闭
Insight into the early pathogenesis and therapeutic strategies of spinocerebellar ataxia type 3/machado–joseph disease from mouse models
1个月前
已完结
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
1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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