Lv31
364 积分 2026-08-06 加入
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies
2小时前
待确认
Incomplete penetrance in neurogenetic disorders: current insights and emerging perspectives
2小时前
已关闭
The interaction of UBR4, LRP1, and OPHN1 in refractory epilepsy: Drosophila model to investigate the oligogenic effect on epilepsy
3天前
已完结
Protective effect of CACNA1A deficiency in oligogenic refractory epilepsy with CACNA1A‐CELSR2 digenic mutations
3天前
已完结
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation
5天前
已完结
Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients
14天前
已完结
Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres
14天前
已完结
Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability
15天前
已完结
Epilepsy gene panel yield and impact on outcomes for adults with unexplained seizures
15天前
已完结
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children
15天前
已完结
皖公网安备34019202002308
