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Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening

Park J, Jang W, Chae H, Kim Y, Chi HY, Kim M

No abstract available.
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An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis

Yoon JG, Shin S, Jung JW, Lee ST, Choi JR

No abstract available.
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Isolated 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

Oh M, Cho IJ, Shin S, Lee ST, Choi JR

No abstract available.
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Ascorbate Oxidase Minimizes Interference by High-Concentration Ascorbic Acid in Total Cholesterol Assays

Nah H, Yim J, Lee SG, Lim JB, Kim JH

No abstract available.
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B-cell Acute Lymphoblastic Leukemia With t(9;22)(q34;q11) Translocation and Clonal Divergence Through ider(22) Chromosome and t(13;17)(q14;q25) Translocation

Meza-Espinoza JP, Romo Martinez EJ, Aguilar Lopez L, Picos Cardenas VJ, Magana Torres MT, Gonzalez Garcia JR

No abstract available.
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Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients

Park CH, Yoo K, Lee KO, Kim SH, Sung KW, Kim HJ

No abstract available.
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Reply to the Letter by Bennett JM, Ann Lab Med 2015;35:542-3

Lee H, Kim Y, Han K

No abstract available.
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Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures

Rim JH, Baik M, Yoon SO, Heo K, Song J

No abstract available.
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Clinical Relevance of p53 Immunohistochemical Stain in the Differential Diagnosis Between Pediatric Aplastic Anemia and Refractory Cytopenia of Childhood

Park SH, Chi HS, Cho YU, Jang S, Park CJ, Im HJ, Seo JJ

No abstract available.
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A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis

Sultanova , Kim SK, Lee JW, Jang PS, Chung NG, Cho B, Park J, Kim Y, Kim M

We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous...
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Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea

Yoon JM, Jang MA, Ki CS, Kim SJ

Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal...
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Xpert CARBA-R Assay for the Detection of Carbapenemase-Producing Organisms in Intensive Care Unit Patients of a Korean Tertiary Care Hospital

Kim DK, Kim HS, Pinto N, Jeon J, D'Souza R, Kim MS, Choi JY, Yong D, Jeong SH, Lee K

Carbapenemase-producing organisms (CPO) are rapidly disseminating worldwide, and their presence in tertiary care hospitals poses a significant threat to the management of nosocomial infections. There is a need to control...
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Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea

Lee MK, Kim S, Kim MN, Kweon OJ, Lim YK, Ki CS, Kim JS, Seong MW, Sung H, Yong D, Lee H, Choi JR, Kim JH, MERS-CoV Laboratory Response Task Force of The Korean Society for Laboratory Medicine

BACKGROUND: It is crucial to understand the current status of clinical laboratory practices for the largest outbreak of Middle East respiratory syndrome coronavirus (MERS-CoV) infections in the Republic of Korea...
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DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population

Park KJ, Park HK, Kim YJ, Lee KR, Park JH, Park JH, Park HD, Lee SY, Kim JW

BACKGROUND: Most cases with congenital hypothyroidism (CH) are usually sporadic, while about 20% of the cases are caused by genetic defects. Little information is available regarding the mutation incidence and...
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In Vitro Synergistic Effects of Antimicrobial Combinations on Extensively Drug-Resistant Pseudomonas aeruginosa and Acinetobacter baumannii Isolates

Lee H, Roh KH, Hong SG, Shin HB, Jeong SH, Song W, Uh Y, Yong D, Lee K

BACKGROUND: Extensively drug-resistant (XDR) Pseudomonas aeruginosa and Acinetobacter baumannii are a threat to hospitalized patients. We evaluated the effects of antimicrobial combinations on XDR P. aeruginosa and A. baumannii isolates. METHODS:...
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Evaluation of Xpert C. difficile, BD MAX Cdiff, IMDx C. difficile for Abbott m2000, and Illumigene C. difficile Assays for Direct Detection of Toxigenic Clostridium difficile in Stool Specimens

Shin BM, Yoo SM, Shin WC

BACKGROUND: We evaluated the performance of four commercial nucleic acid amplification tests (NAATs: Xpert C. difficile, BD MAX Cdiff, IMDx C. difficile for Abbott m2000, and Illumigene C. difficile) for...
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In Vitro Interactions of Antibiotic Combinations of Colistin, Tigecycline, and Doripenem Against Extensively Drug-Resistant and Multidrug-Resistant Acinetobacter baumannii

Park GC, Choi JA, Jang SJ, Jeong SH, Kim CM, Choi IS, Kang SH, Park G, Moon DS

BACKGROUND: Acinetobacter baumannii infections are difficult to treat owing to the emergence of various antibiotic resistant isolates. Because treatment options are limited for multidrug-resistant (MDR) A. baumannii infection, the discovery...
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Direct Identification and Antimicrobial Susceptibility Testing of Bacteria From Positive Blood Culture Bottles by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry and the Vitek 2 System

Jo SJ, Park KG, Han K, Park DJ, Park YJ

BACKGROUND: We evaluated the reliability and accuracy of the combined use of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) bacterial identification and Vitek 2 antimicrobial susceptibility testing (AST) for...
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Synergistic Anti-bacterial Effects of Phellinus baumii Ethyl Acetate Extracts and beta-Lactam Antimicrobial Agents Against Methicillin-Resistant Staphylococcus aureus

Hong SB, Rhee MH, Yun BS, Lim YH, Song HG, Shin KS

BACKGROUND: The development of new drugs or alternative therapies effective against methicillin-resistant Staphylococcus aureus (MRSA) is of great importance, and various natural anti-MRSA products are good candidates for combination therapies....
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Clinicopathological Implications of Mitochondrial Genome Alterations in Pediatric Acute Myeloid Leukemia

Kang MG, Kim YN, Lee JH, Szardenings M, Baek HJ, Kook H, Kim HR, Shin MG

BACKGROUND: To the best of our knowledge, the association between pediatric AML and mitochondrial aberrations has not been studied. We investigated various mitochondrial aberrations in pediatric AML and evaluated their...
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