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

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Showing results 14 to 26 of 26

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Issue DateTitleJournal Title
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
2012Highly pure and expandable PSA-NCAM-positive neural precursors from human ESC and iPSC-derived neural rosettes PLOS ONE
2011Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patientsANNALS OF NEUROLOGY
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
2023Population pharmacokinetics of everolimus in patients with seizures associated with focal cortical dysplasia FRONTIERS IN PHARMACOLOGY
2019Proband-Only Clinical Exome Sequencing for Neurodevelopmental DisabilitiesPEDIATRIC NEUROLOGY
2020Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations FRONTIERS IN 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
2013The Genetically Modified Polysialylated Form of Neural Cell Adhesion Molecule-Positive Cells for Potential Treatment of X-Linked Adrenoleukodystrophy YONSEI MEDICAL JOURNAL
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