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120 积分 2026-06-22 加入
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
2天前
已完结
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes
6天前
已完结
Mongolian spots in GM1 gangliosidosis: A pictorial report
25天前
已关闭
Genetic Basis of Childhood Cardiomyopathy
25天前
已完结
Genetic Basis of Childhood Cardiomyopathy
25天前
已完结
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients
25天前
已完结
Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations
1个月前
已完结
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France
1个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
1个月前
已完结
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