Found: 30
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Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Comparative genomics of Mycoplasma pneumoniae isolated from children with pneumonia: South Korea, 2010–2016.
- Published in:
- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6306-9
- By:
- Publication type:
- Article
A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B.
- Published in:
- Annals of Laboratory Medicine, 2024, v. 44, n. 6, p. 625, doi. 10.3343/alm.2024.0140
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- Publication type:
- Article
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 1, p. 79, doi. 10.3343/alm.2022.42.1.79
- By:
- Publication type:
- Article
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2021, v. 41, n. 4, p. 394, doi. 10.3343/alm.2021.41.4.394
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- Publication type:
- Article
Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea.
- Published in:
- Annals of Laboratory Medicine, 2019, v. 39, n. 6, p. 599, doi. 10.3343/alm.2019.39.6.599
- By:
- Publication type:
- Article
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 3, p. 242, doi. 10.3343/alm.2018.38.3.242
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- Publication type:
- Article
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 1, p. 54, doi. 10.3343/alm.2018.38.1.54
- By:
- Publication type:
- Article
Performance of two commercially available BCR-ABL1 quantification assays that use an international reporting scale.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 7, p. 1157, doi. 10.1515/cclm-2015-0611
- By:
- Publication type:
- Article
Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2669, doi. 10.1002/ajmg.a.34246
- By:
- Publication type:
- Article
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).
- Published in:
- Clinical & Experimental Reproductive Medicine, 2013, v. 40, n. 1, p. 42, doi. 10.5653/cerm.2013.40.1.42
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- Publication type:
- Article
Communication: Comparison of Respiratory Specimens for the Detection of SARS-CoV-2.
- Published in:
- Annals of Clinical & Laboratory Science, 2021, v. 51, n. 1, p. 140
- By:
- Publication type:
- Article
Long QT Syndrome and Dilated Cardiomyopathy with SCN5A p.R1193Q Polymorphism: Cardioverter-Defibrillator Implantation at 27 Months.
- Published in:
- Pacing & Clinical Electrophysiology, 2012, v. 35, n. 8, p. e243, doi. 10.1111/j.1540-8159.2012.03409.x
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- Publication type:
- Article
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Parallel Analysis of Pre- and Postoperative Circulating Tumor DNA and Matched Tumor Tissues in Resectable Pancreatic Ductal Adenocarcinoma: A Prospective Cohort Study.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 12, p. 1509, doi. 10.1093/clinchem/hvac153
- By:
- Publication type:
- Article
FMS-like Tyrosine Kinase 3-Internal Tandem Duplication Allele Concentrations Should Be Determined in a Mutation-Type-Specific Manner.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 4, p. 691, doi. 10.1093/clinchem/hvab019
- By:
- Publication type:
- Article
Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 4, p. 614, doi. 10.1093/clinchem/hvaa025
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- Publication type:
- Article
Longitudinal proteomic profiling provides insights into host response and proteome dynamics in COVID‐19 progression.
- Published in:
- Proteomics, 2021, v. 21, n. 11/12, p. 1, doi. 10.1002/pmic.202000278
- By:
- Publication type:
- Article
PRRT2 mutation in Korean patients with paroxysmal kinesigenic dyskinesia: A clinico-genetic analysis.
- Published in:
- Neurology Asia, 2014, v. 19, n. 4, p. 357
- By:
- Publication type:
- Article
Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019.
- Published in:
- Clinical Infectious Diseases, 2021, v. 73, n. 9, p. e3002, doi. 10.1093/cid/ciaa1421
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- Publication type:
- Article
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
- Published in:
- Endocrinology & Metabolism, 2020, v. 35, n. 4, p. 909, doi. 10.3803/EnM.2020.756
- By:
- Publication type:
- Article
Strabismus in chronic progressive external ophthalmoplegia.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 2, p. e274, doi. 10.1111/aos.14558
- By:
- Publication type:
- Article
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03331-6
- By:
- Publication type:
- Article
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2811, doi. 10.3390/ijms25052811
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- Publication type:
- Article
A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
- Published in:
- BMC Cancer, 2014, v. 14, p. 1, doi. 10.1186/1471-2407-14-645
- By:
- Publication type:
- Article
ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application.
- Published in:
- BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-023-05173-8
- By:
- Publication type:
- Article
A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
- Published in:
- 2014
- By:
- Publication type:
- journal article