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1. College of Medicine (의과대학)
Dept. of Pediatrics (소아과학교실)
1. Journal Papers
Browsing "1. Journal Papers" by Author : 7517
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Showing results 1 to 6 of 6
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Title
Journal Title
2021
Clinical characteristics of KCNQ2 encephalopathy
BRAIN & DEVELOPMENT
2021
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish
HUMAN MOLECULAR GENETICS
2023
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
FRONTIERS IN IMMUNOLOGY
2020
Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
FRONTIERS IN NEUROLOGY
2024
저신장 환아에서 발견한 TRAPPC2 유전자 돌연변이의 기능 검사를 통한 해석 1예 보고
Laboratory Medicine Online
2022
조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고
Laboratory Medicine Online
1
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