Browsing by Yonsei Author : Shin, Saeam

Shin, Saeam [신새암]
Department :
College of Medicine (의과대학) - Dept. of Laboratory Medicine (진단검사의학교실)
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Issue DateTitleJournal Title
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
2016An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis ANNALS OF LABORATORY MEDICINE
2016Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion ANNALS OF LABORATORY MEDICINE
2016t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia ANNALS OF LABORATORY MEDICINE
2016Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variantsBREAST CANCER RESEARCH AND TREATMENT
2016PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis ANNALS OF LABORATORY MEDICINE
2015Isochromosome 1q in childhood Burkitt lymphoma: the first reported case in Korea ANNALS OF LABORATORY MEDICINE
2015Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots ANNALS OF LABORATORY MEDICINE
2015Establishing quality control ranges for antimicrobial susceptibility testing of Escherichia coli, Pseudomonas aeruginosa, and Staphylococcus aureus: a cornerstone to develop reference strains for Korean clinical microbiology laboratories ANNALS OF LABORATORY MEDICINE
2015NOTCH2 missplicing can occur in relation to apoptosisBLOOD
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
2015치료적 혈장교환술에 사용하는 치환용액의 선택과 주의사항 Korean Journal of Blood Transfusion (대한수혈학회지)
2013Analysis of mutations in the XPD gene in a patient with brittle hairANNALS OF CLINICAL AND LABORATORY SCIENCE