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128 积分 2023-01-14 加入
Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children
16小时前
待确认
Insights Into DEPDC5-Related Epilepsy From 586 People: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes
1个月前
已完结
Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity
1个月前
已完结
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
1个月前
已完结
Human RNF113A participates of pre‐mRNA splicing in vitro
2个月前
已完结
Compound heterozygous variants in IRAK4 cause IRAK4 deficiency characterized by recurrent bacterial infections, brain calcification, and severe epilepsy
3个月前
已关闭
The Neurodevelopmental Disorders Associated Gene Rnf113a Regulates Survival and Differentiation Properties of Neural Stem Cells
3个月前
已完结
Efficacy and safety of long-term combination therapy with lacosamide and oxcarbazepine for pediatric patients with focal epilepsy: real-world clinical experience
3个月前
已完结
Efficacy and safety of long-term combination therapy with lacosamide and oxcarbazepine for pediatric patients with focal epilepsy: real-world clinical experience
3个月前
已完结
Efficacy and safety of long-term combination therapy with lacosamide and oxcarbazepine for pediatric patients with focal epilepsy: real-world clinical experience
4个月前
已完结
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