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YUHSpace1. College of Medicine (의과대학)Dept. of Laboratory Medicine (진단검사의학교실)1. Journal Papers

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Showing results 1 to 19 of 19

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Issue DateTitleJournal Title
2022Analysis of trio test in neurodevelopmental disorders FRONTIERS IN PEDIATRICS
2021Clinical characteristics of KCNQ2 encephalopathyBRAIN & DEVELOPMENT
2019Clinical features and treatment efficacy in cdkl5 mutation-related epileptic encephalopathy in the infant Annals of Child Neurology
2020Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical DevelopmentPEDIATRIC NEUROLOGY
2023Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental DisordersJOURNAL OF MOLECULAR DIAGNOSTICS
2018Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단 Journal of the Korean Child Neurology Society
2021Disparate treatment outcomes according to presence of pathogenic mutations in West syndromeEPILEPSIA
2018Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations JOURNAL OF CLINICAL NEUROLOGY
2018Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing BMC MEDICAL GENOMICS
2021Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafishHUMAN MOLECULAR GENETICS
2019Genetic and clinical features of SCN8A developmental and epileptic encephalopathyEPILEPSY RESEARCH
2020Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression patternEPILEPSY RESEARCH
2017KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예 Journal of the Korean Child Neurology Society
2017Mowat-Wilson syndrome presenting with fever-associated seizuresEPILEPTIC DISORDERS
2019Proband-Only Clinical Exome Sequencing for Neurodevelopmental DisabilitiesPEDIATRIC NEUROLOGY
2018Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathyEPILEPSY RESEARCH
2020Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathyBRAIN & DEVELOPMENT
2018The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy FRONTIERS IN NEUROLOGY
2022조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고 Laboratory Medicine Online
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