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60 积分 2024-11-27 加入
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
4小时前
求助中
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
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
7天前
已完结
Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication
9天前
已完结
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]
9天前
已完结
Epileptogenic focal lesions in Dravet syndrome: a warning to investigators
9天前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
9天前
已关闭
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
10天前
已完结
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
13天前
已关闭
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]
13天前
已关闭
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