Browsing by Yonsei Author : Lee, Kyung A

Lee, Kyung A [이경아]
Department :
College of Medicine (의과대학) - Dept. of Laboratory Medicine (진단검사의학교실)
(Yonsei Health Research Network)
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Issue DateTitleJournal Title
2020Differential Contributions of Sarcomere and Mitochondria-Related Multigene Variants to the Endophenotype of Hypertrophic CardiomyopathyMITOCHONDRION
2020Genetic Spectrum of UGT1A1 in Korean Patients With Unconjugated Hyperbilirubinemia ANNALS OF LABORATORY MEDICINE
2020Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M MutationJOURNAL OF CANCER
2020An optimized BRCA1/2 next-generation sequencing for different clinical sample types JOURNAL OF GYNECOLOGIC ONCOLOGY
2020Detection of Anti-Extractable Nuclear Antigens in Patients with Systemic Rheumatic Disease via Fluorescence Enzyme Immunoassay and Its Clinical Utility YONSEI MEDICAL JOURNAL
2019진단상의 어려움: 전신성 자가면역 질환의 증상을 모방하는 원발성 골수 광범위큰B세포림프종 진단 Laboratory Medicine Online
2019Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy CARDIOVASCULAR ULTRASOUND
2019Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients Cancer Cell International
2019Diagnostic performance of CA 125, HE4, and risk of Ovarian Malignancy Algorithm for ovarian cancer JOURNAL OF CLINICAL LABORATORY ANALYSIS
2018Performance evaluation of cobas HBV real-time PCR assay on Roche cobas 4800 System in comparison with COBAS AmpliPrep/COBAS TaqMan HBV TestCLINICAL CHEMISTRY AND LABORATORY MEDICINE
2018A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases YONSEI MEDICAL JOURNAL
2018Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe AmplificationLaboratory Medicine Online
2018Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development. ANNALS OF LABORATORY MEDICINE
2018Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases. ANNALS OF LABORATORY MEDICINE
2018DeviCNV: Detection and Visualization of Exon-Level Copy Number Variants in Targeted Next Generation Sequencing Data BMC BIOINFORMATICS
2018A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories BIOMED RESEARCH INTERNATIONAL
2017Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia ANNALS OF LABORATORY MEDICINE
2017A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization PLOS ONE
2017Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients ONCOTARGET
2017Assessment of real-time PCR method for detection of EGFR mutation using both supernatant and cell pellet of malignant pleural effusion samples from non-small-cell lung cancer patientsCLINICAL CHEMISTRY AND LABORATORY MEDICINE
2017Effects of Triflusal and Clopidogrel on the Secondary Prevention of Stroke Based on Cytochrome P450 2C19 Genotyping JOURNAL OF STROKE
2017Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing ONCOTARGET
2017Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans PLOS ONE
2017Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects YONSEI MEDICAL JOURNAL
2017Concomitant AID Expression and BCL7A Loss Correlates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia ANNALS OF LABORATORY MEDICINE
2017Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines ANNALS OF LABORATORY MEDICINE
2017Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization PLOS ONE
2016PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis ANNALS OF LABORATORY MEDICINE
2016Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patientsJOURNAL OF HUMAN GENETICS
2016고시트룰린혈증의 신생아 선별검사 후 진단 알고리즘 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2016임상약물유전학 검사와 적용 : 진단검사의학 임상검사 지침-2부 Laboratory Medicine Online
2016Development and comparison of warfarin dosing algorithms for stroke patients YONSEI MEDICAL JOURNAL
2016Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase DeficiencyANNALS OF CLINICAL AND LABORATORY SCIENCE
2016선천성 부신 과형성증(21-hydroxylase 결핍)의 신생아 선별 검사 후 진단 알고리즘 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2016아이소발레릭산혈증의 신생아선별검사 후 진단 및 치료 전략 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2016Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation Neonatal Medicine
2016Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent MutationANNALS OF CLINICAL AND LABORATORY SCIENCE
2015Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene EXPERIMENTAL AND MOLECULAR MEDICINE
2015Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder ANNALS OF LABORATORY MEDICINE
2015Clinical and Genetic Characterization of Female Dystrophinopathy JOURNAL OF CLINICAL NEUROLOGY
2015디스트로핀 유전자에 새로이 발견된 불연속적 엑손 중복을 보이는 Duchenne형 근디스트로피 환자 5예 Laboratory Medicine Online
2015First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome ANNALS OF LABORATORY MEDICINE
2015Analytical Performance of Multiplex Real-Time PCR for Six Sexually Transmitted PathogensCLINICAL LABORATORY
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
2014Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.LARYNGOSCOPE
2014Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies Case Reports in Genetics
2014A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene Korean Journal of Ophthalmology
2014Evaluation of Three Automated Nucleic Acid Extraction Systems for Identification of Respiratory Viruses in Clinical Specimens by Multiplex Real-time PCR BIOMED RESEARCH INTERNATIONAL
2014Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients JOURNAL OF BREAST CANCER
2014Differential association of RANTES-403 and IL-1B-1464 polymorphisms on histological subtypes in male Korean patients with gastric cancerTUMOR BIOLOGY