| 2008 | 8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. | CANCER GENETICS AND CYTOGENETICS |
| 2008 | 8번 염색체 사체성을 보인 급성단구성백혈병 1예
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 2001 | A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition
| YONSEI MEDICAL JOURNAL |
| 2000 | A case of Klinefelter syndrome with retroperitoneal teratoma
| Yonsei Medical Journal |
| 2010 | A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 2017 | A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma
| ANNALS OF LABORATORY MEDICINE |
| 2013 | A 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) |
| 2007 | A der(1;15)(q10;q10) is a rare nonrandom whole-arm translocation in patients with acute lymphoblastic leukemia | CANCER GENETICS AND CYTOGENETICS |
| 2012 | A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2011 | A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 1999 | A molecular model of a point mutation (Val297Met) in the serine protease domain of protein C | Experimental and Molecular Medicine |
| 2016 | A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806) | LUNG CANCER |
| 2017 | A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization
| PLOS ONE |
| 2008 | A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
| BMC MEDICAL GENETICS |
| 2013 | A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis | BLOOD COAGULATION & FIBRINOLYSIS |
| 2006 | A novel fibrinogen variant (fibrinogen Seoul II; AαGln328Pro) characterized by impaired fibrin α-chain cross-linking
| BLOOD |
| 2009 | A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family | BLOOD COAGULATION & FIBRINOLYSIS |
| 2020 | A Novel KPC Variant KPC-55 in Klebsiella pneumoniae ST307 of Reinforced Meropenem-Hydrolyzing Activity
| FRONTIERS IN MICROBIOLOGY |
| 2008 | A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. | CANCER GENETICS AND CYTOGENETICS |
| 2011 | A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2009 | A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2011 | A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies
| ACTA DERMATO-VENEREOLOGICA |
| 2001 | A Novel Silent Substitution (C8516T) in Exon 9 of the Human PROC Gene
| YONSEI MEDICAL JOURNAL |
| 2010 | A novel t(1;12)(q21;q24) in a patient with myelodysplastic syndrome | ANNALS OF HEMATOLOGY |
| 2009 | A novel three-way t(7;21;8)(q11.2;q22;q22) in a patient with acute myeloid leukemia | CANCER GENETICS AND CYTOGENETICS |
| 2012 | A novel three-way variant t(4;17;5)(p16;q23;q31) in a case of secondary plasma cell leukemia. | LEUKEMIA RESEARCH |
| 2018 | A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray. | ANNALS OF HEMATOLOGY |
| 2022 | A Single-Center Experience on HLA Typing with 11 Loci Next Generation Sequencing in Korean Patients with Hematologic Disease
| DIAGNOSTICS |
| 2009 | A tandem triplication, trp(1)(q21q32), in a patient with follicular lymphoma: a case study and review of the literature | CANCER GENETICS AND CYTOGENETICS |
| 2017 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome | JAMA OPHTHALMOLOGY |
| 2008 | Acute erythroleukemia with der(1;7)(q10;p10) as a sole acquired abnormality after treatment with azathioprine. | CANCER GENETICS AND CYTOGENETICS |
| 2009 | Acute promyelocytic leukemia in early pregnancy with translocation t(15;17) and variant PML/RARA fusion transcripts | CANCER GENETICS AND CYTOGENETICS |
| 2008 | Acute promyelocytic leukemia relapsing as secondary acute myelogenous leukemia with translocation t(3;21)(q26;q22) and RUNX1-MDS1-EVI1 fusion transcript | CANCER GENETICS AND CYTOGENETICS |
| 2011 | Acute promyelocytic leukemia with complex translocation t(5;17;15)(q35;q21;q22): case report and review of the literature. | JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY |
| 2009 | Acute promyelocytic leukemia with insertion of PML exon 7a and partial deletion of exon 3 of RARA: a novel variant transcript related to aggressive course and not detected with real-time polymerase chain reaction analysis | CANCER GENETICS AND CYTOGENETICS |
| 2011 | Acute promyelocytic leukemia with trisomy 8 and del(9)(q22) after treatment of cervical cancer with concurrent chemoradiotherapy: a case report. | ONKOLOGIE |
| 2004 | Adoptive Immunotherapy for Cytomegalovirus (CMV) Disease in Immunocompromised Patients
| YONSEI MEDICAL JOURNAL |
| 2011 | Alteration of elastin metabolism in women with pelvic organ prolapse | JOURNAL OF UROLOGY |
| 2010 | Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). | JOURNAL OF DERMATOLOGICAL SCIENCE |
| 2009 | AML1-ETO 양성인 양표현형 급성 백혈병의
| Korean Journal of Medicine |
| 2022 | Amplification of the Chromosomal blaCTX-M-14 Gene in Escherichia coli Expanding the Spectrum of Resistance under Antimicrobial Pressure
| MICROBIOLOGY SPECTRUM |
| 2016 | An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
| ANNALS OF LABORATORY MEDICINE |
| 2022 | An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met
| STEM CELL RESEARCH |
| 2010 | An SRY-deleted XXY female resulting from a paternally inherited t(Y;22) | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2010 | Analysis of fluorescence in situ hybridization, mtDNA quantification, and mtDNA sequence for the detection of early bladder cancer | CANCER GENETICS AND CYTOGENETICS |
| 2022 | Analysis of trio test in neurodevelopmental disorders
| FRONTIERS IN PEDIATRICS |
| 2022 | Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden | CLINICAL CHEMISTRY |
| 2020 | Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy | CLINICA CHIMICA ACTA |
| 2013 | Application of BRAF, NRAS, KRAS mutations as markers for the detection of papillary thyroid cancer from FNAB specimens by pyrosequencing analysis | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
| 2018 | Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population
| ANNALS OF LABORATORY MEDICINE |
| 2022 | Applications of molecular barcode sequencing for the detection of low-frequency variants in circulating tumour DNA from hepatocellular carcinoma | LIVER INTERNATIONAL |
| 2009 | Association between acute promyelocytic leukemia and ring chromosome 6 | CANCER GENETICS AND CYTOGENETICS |
| 2010 | Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population. | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 1997 | Association of Br polymorphism of platelet GP Ia
gene and immune thrombocytopenic purpura | PLATELETS |
| 2009 | Association of BRAFV600E mutation with poor clinical prognostic factors and US features in Korean patients with papillary thyroid microcarcinoma. | RADIOLOGY |
| 2010 | Automated detection of malaria-associated pseudoeosinophilia and abnormal WBC scattergram by the Sysmex XE-2100 hematology analyzer: a clinical study with 1,801 patients and real-time quantitative PCR analysis in vivax malaria-endemic area
| AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE |
| 2009 | BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia. | CANCER GENETICS AND CYTOGENETICS |
| 2008 | Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion | PEDIATRIC NEUROLOGY |
| 2020 | Beneficial Chromosomal Integration of the Genes for CTX-M Extended-Spectrum β-Lactamase in Klebsiella pneumoniae for Stable Propagation
| MSYSTEMS |
| 2009 | Biphenotypic acute leukemia with b2a2 fusion transcript and trisomy 21 | CANCER GENETICS AND CYTOGENETICS |
