具有NIPBL基因致病性变异的科妮莉亚·德·兰格综合征患儿难治性癫痫的特征分析:1例报告

IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY
Amélia Mendes , Ana Miguel Capela , Ângela Pereira , Rui Chorão
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引用次数: 0

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Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report
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来源期刊
Seizure-European Journal of Epilepsy
Seizure-European Journal of Epilepsy 医学-临床神经学
CiteScore
5.60
自引率
6.70%
发文量
231
审稿时长
34 days
期刊介绍: Seizure - European Journal of Epilepsy is an international journal owned by Epilepsy Action (the largest member led epilepsy organisation in the UK). It provides a forum for papers on all topics related to epilepsy and seizure disorders.
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