Browsing by Yonsei Author : Shin, Saeam

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Name:
Shin, Saeam [신새암]
orcid http://orcid.org/0000-0003-1501-3923
Department :
College of Medicine (의과대학) - Dept. of Laboratory Medicine (진단검사의학교실)
Scopus ID :
Scopus (55257458400)

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Issue DateTitleJournal Title
2023The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2023A Case of STIL-TAL1-positive T-lymphoblastic Leukemia With a Minor Philadelphia-positive Clone ANNALS OF LABORATORY MEDICINE
2023RAB29-NUCKS1 유전자재배열을 동반한 공격성NK세포백혈병: 증례보고 Laboratory Medicine Online
2022Analysis of trio test in neurodevelopmental disorders FRONTIERS IN PEDIATRICS
2022Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational BurdenCLINICAL CHEMISTRY
2022Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death JOURNAL OF AUTOIMMUNITY
2022Rare Gene Rearrangement t(11;22)(q23;q13)/ KMT2A-EP300 in Therapy-related Acute Myeloid Leukemia: A Case Report ANNALS OF LABORATORY MEDICINE
2022Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer CANCER RESEARCH AND TREATMENT
2022Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample CANCER CELL INTERNATIONAL
2022Recommendations for the Verification of Quantitative Molecular Hemato-Oncology Tests Laboratory Medicine Online
2022순환종양핵산 검사의 임상 적용 Laboratory Medicine Online
2022Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia JOURNAL OF CANCER
2022Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy FRONTIERS IN NEUROLOGY
2022Real-world data on prognostic value of measurable residual disease assessment by fragment analysis or next-generation sequencing in multiple myelomaBRITISH JOURNAL OF HAEMATOLOGY
2022유전성 암 유전자에서 검출된 염기 변이의 해석을 위한 기능 연구 근거의 적용 Laboratory Medicine Online
2022Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype CorrelationDISEASES OF THE COLON & RECTUM
2022Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2022Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma SCIENTIFIC REPORTS
2022조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고 Laboratory Medicine Online
2022Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing ANNALS OF LABORATORY MEDICINE
2022Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report ANNALS OF LABORATORY MEDICINE
2022ATP1A2 유전자 변이를 보인 산발반신마비 편두통 Journal of the Korean Neurological Association(대한신경과학회지)
2022Application of CRISPR/Cas9-based mutant enrichment technique to improve the clinical sensitivity of plasma EGFR testing in patients with non-small cell lung cancer CANCER CELL INTERNATIONAL
2022Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer Laboratory Medicine Online
2022A comparative study of next-generation sequencing and fragment analysis for the detection and allelic ratio determination of FLT3 internal tandem duplication DIAGNOSTIC PATHOLOGY
2022Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort GENES
2022Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients JOURNAL OF MOLECULAR DIAGNOSTICS
2021Evaluation of a hybridization capture-based hereditary cancer panel for the ion semiconductor-based next-generation sequencing systemCLINICA CHIMICA ACTA
2021Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease MonitoringOCULAR IMMUNOLOGY AND INFLAMMATION
2021Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell TransplantationCLINICAL CHEMISTRY
2021Evaluation of Combined Cancer Markers With Lactate Dehydrogenase and Application of Machine Learning Algorithms for Differentiating Benign Disease From Malignant Ovarian CancerCANCER CONTROL
2021Corrigendum to 'Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy' [Brain Dev. 42(6) (2020) 438-448]BRAIN & DEVELOPMENT
2021Exosome-based detection of EGFR T790M in plasma and pleural fluid of prospectively enrolled non-small cell lung cancer patients after first-line tyrosine kinase inhibitor therapy CANCER CELL INTERNATIONAL
2020Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population Endocrinology and Metabolism (대한내분비학회지)
2020Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophyCLINICA CHIMICA ACTA
2020Altered Gut Microbiota and Shift in Bacteroidetes between Young Obese and Normal-Weight Korean Children: A Cross-Sectional Observational Study BIOMED RESEARCH INTERNATIONAL
2020A novel approach for tuberculosis diagnosis using exosomal DNA and droplet digital PCRCLINICAL MICROBIOLOGY AND INFECTION
2020Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathyBRAIN & DEVELOPMENT
2020Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy FRONTIERS IN PHARMACOLOGY
2020Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A) JOURNAL OF CLINICAL NEUROLOGY
2020Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis MOLECULAR VISION
2020Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M MutationJOURNAL OF CANCER
2019Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients Cancer Cell 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
2017Diagnostic application of clinical exome sequencing in Leber congenital amaurosis MOLECULAR VISION
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
2017A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization PLOS ONE
2017Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization PLOS ONE
2017Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing ONCOTARGET
2016Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray ANNALS OF LABORATORY MEDICINE
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