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YUHSpace1. College of Medicine (의과대학)Dept. of Pediatrics (소아과학교실)1. Journal Papers

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Issue Date	Title	Journal Title
2017	Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls	CANCER RESEARCH AND TREATMENT
2022	Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer	CANCER RESEARCH AND TREATMENT
2017	KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예	Journal of the Korean Child Neurology Society
2017	Mowat-Wilson syndrome presenting with fever-associated seizures	EPILEPTIC DISORDERS
2020	Newborn hereditary elliptocytosis confirmed by familial genetic testing	INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
2019	Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities	PEDIATRIC NEUROLOGY
2020	Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations	FRONTIERS IN NEUROLOGY
2016	t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia	ANNALS OF LABORATORY MEDICINE
2018	Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy	EPILEPSY RESEARCH
2020	Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy	BRAIN & DEVELOPMENT
2019	Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는	PLOS ONE
2018	The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy	FRONTIERS IN NEUROLOGY
2023	The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2019	Trends in contralateral prophylactic mastectomy rate according to clinicopathologic and socioeconomic status	ANNALS OF SURGICAL TREATMENT AND RESEARCH
2018	Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer	BMC CANCER
2016	유전체 의학 시대를 맞이한 유전성 유방암-난소암 증후군 유전 검사의 임상적 함의: 임상의사가 바라본 전망	Journal of Breast Disease
2022	조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고	Laboratory Medicine Online

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