Browsing by Yonsei Author : Yu, Nae

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Yu, Nae [유내]
Department :
College of Medicine (의과대학) - Dept. of Laboratory Medicine (진단검사의학교실)

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Issue DateTitleJournal Title
2017Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing ONCOTARGET
2017Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia ANNALS OF LABORATORY MEDICINE
2015First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome ANNALS OF LABORATORY MEDICINE
2015Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder ANNALS OF LABORATORY MEDICINE
2015디스트로핀 유전자에 새로이 발견된 불연속적 엑손 중복을 보이는 Duchenne형 근디스트로피 환자 5예 Laboratory Medicine Online
2015Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement. JOURNAL OF MEDICAL GENETICS
2014Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma BLOOD RESEARCH
2013A Comparative Study of the Diagnostic Performance of the GENEDIA Avellino Corneal Dystrophy Mutation Detection Kit and Screening Master Mix and a Direct Sequencing Method to Detect Mutations in the TGFB1 Gene Journal of Laboratory Medicine and Quality Assurance (임상검사와 정도관리)
2012The First Korean Case of Candidemia due to Candida dubliniensis ANNALS OF LABORATORY MEDICINE
2011Development of Acute Megakaryoblastic Leukemia with Isochromosome (12p) after a Primary Mediastinal Germ Cell Tumor in Korea JOURNAL OF KOREAN MEDICAL SCIENCE
2011질염 환자에서 다중 PCR을 이용한 배양이 까다로운 미생물 검출의 임상적 유용성 Korean Journal of Clinical Microbiology (대한임상미생물학회지)
2011A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemiaANNALS OF HEMATOLOGY