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1. College of Medicine (의과대학)
Dept. of Pediatrics (소아과학교실)
1. Journal Papers
Browsing "1. Journal Papers" by Author : 3234
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Showing results 28 to 42 of 42
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Issue Date
Title
Journal Title
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
2024
Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights
FRONTIERS IN ONCOLOGY
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
1
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