Browsing "1. Journal Papers" by Author : 1793

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Issue DateTitleJournal Title
200712세 남아에서 발견된 기관지 점액표피양 암종 1례Pediatric Allergy and Respiratory Disease (소아알레르기 호흡기학회지)
20049세 남아에서 우연히 발견된 기관지원성 낭종 1례 Pediatric Allergy and Respiratory Disease (소아알레르기 호흡기학회지)
2006A Case of Cogential Fiber Type Disproportion With Multiple Anomalies Journal of the Korean Child Neurology Society
2010A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiencyBRAIN & DEVELOPMENT
2007Basement membrane thickening and clinical features of children with asthmaALLERGY
2018BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumorsNATURE MEDICINE
2015Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsyNATURE MEDICINE
2018Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical DyslaminationNEURON
2019Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsyJOURNAL OF CLINICAL INVESTIGATION
2018Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylationNEUROLOGY-GENETICS
2023Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development NATURE GENETICS
2023Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental DisordersJOURNAL OF MOLECULAR DIAGNOSTICS
2016Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)PEDIATRIC NEPHROLOGY
2019Epilepsy Surgery for Children With Low-Grade Epilepsy-Associated Tumors: Factors Associated With Seizure Recurrence and Cognitive FunctionPEDIATRIC NEUROLOGY
2020Epilepsy surgery for pediatric patients with mild malformation of cortical developmentSEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2022Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) Annals of Child Neurology
2021Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) ACTA NEUROPATHOLOGICA COMMUNICATIONS
2017Fukuyama 선천성 근이영양증에서의 분자유전학적 분석 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2015Leigh 증후군 환자의 임상적 생화학적 진단 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2017Long-term epilepsy-associated tumor in the amygdala of a 16-year-old boy: report of a rare case having intranuclear filamentsBRAIN TUMOR PATHOLOGY
2024Long-term Outcomes of Protocol-Based Treatment for Newly Diagnosed Medulloblastoma CANCER RESEARCH AND TREATMENT
2008Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditionsEPILEPSIA
2017Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers FRONTIERS IN NEUROLOGY
2015Neonatal mitochondrial respiratory chain defect and vaginal embryonal rhabdomyosarcoma : possibility of oncogenesis? Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2011Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery.EPILEPSIA
2012New Classification of Focal Cortical Dysplasia: Application to Practical Diagnosis Journal of Epilepsy Research
2009Outcome of surgical treatment in non-lesional intractable childhood epilepsySEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2015Patterns of Failure Following Multimodal Treatment for Medulloblastoma: Long-Term Follow-up Results at a Single Institution CANCER RESEARCH AND TREATMENT
2019Precise detection of low-level somatic mutation in resected epilepsy brain tissueACTA NEUROPATHOLOGICA
2004Proteomic analysis distinguishes basaloid carcinoma as a distinct subtype of nonsmall cell lung carcinomaPROTEOMICS
2013Relapsed herpes simplex virus encephalitis after epilepsy surgery Journal of Epilepsy Research
2017Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical DysplasiaAMERICAN JOURNAL OF HUMAN GENETICS
2016Surgical treatment of pediatric focal cortical dysplasia: Clinical spectrum and surgical outcomeNEUROLOGY
2019The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes YONSEI MEDICAL JOURNAL
2016Transforming growth factor-beta 1 in humidifier disinfectant-associated children's interstitial lung diseasePEDIATRIC PULMONOLOGY
2016Treatment Outcome and Prognostic Molecular Markers of Supratentorial Primitive Neuroectodermal Tumors. PLOS ONE
2017Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects JOURNAL OF CLINICAL NEUROLOGY
2011X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation YONSEI MEDICAL JOURNAL
2007대뇌피질 이형성증과 미세발생이상; 난치성 소아 간질로 뇌엽절제술을 받은 환자에서의 임상소견, 뇌파 및 영상학적 비교Journal of the Korean Child Neurology Society
2018미토콘드리아 DNA 돌연변이에 따른 Leigh 증후군의 임상 양상 분석 Journal of the Korean Child Neurology Society
1998선천성 결핵 1례Journal of the Korean Society of Neonatology
2010신생아기에 진단된 미토콘드리아 질환 3례 Journal of the Korean Society of Neonatology
2006측두엽 간질의 삼중 병리에 대한 절제술의 경험Korean Journal of Pediatric Neurosurgery (대한소아신경외과학회지)
2005흉막 삼출을 동반한 흉선 성숙 기형종 1례 Pediatric Allergy and Respiratory Disease (소아알레르기 호흡기학회지)
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