Lv1
80 积分 2024-05-14 加入
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
3天前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
3天前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
7天前
已完结
SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping
11天前
已完结
SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping
11天前
已完结
Novel variants in the PAX6 gene related to isolated aniridia
28天前
已完结
Mutation spectrum and health status in skeletal muscle channelopathies in Japan
1个月前
已完结
Revisiting pachyonychia congenita: a case‐cohort study of 815 patients
1个月前
已完结
AP-1 contributes to endosomal targeting of ubiquitin ligase RNF13 via a secondary and novel non-canonical binding motif
1个月前
已关闭
Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma
1个月前
已关闭
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