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Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
- Published in:
- 2020
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- Publication type:
- journal article
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
- Published in:
- 2019
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- Publication type:
- journal 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
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- Publication type:
- Article
Comparison of factors influencing landslide risk near a forest road in Chungju-si, South Korea.
- Published in:
- Geoenvironmental Disasters, 2024, v. 11, n. 1, p. 1, doi. 10.1186/s40677-024-00267-8
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- Publication type:
- Article
Impact of Treatment on Long-Term Survival of Patients With Mycobacterium avium Complex Pulmonary Disease.
- Published in:
- Clinical Infectious Diseases, 2023, v. 77, n. 1, p. 120, doi. 10.1093/cid/ciad108
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- Publication type:
- Article
Implication of species change of Nontuberculous Mycobacteria during or after treatment.
- Published in:
- 2017
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- Publication type:
- journal article
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 275, doi. 10.1007/s10048-012-0327-8
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- Publication type:
- Article
Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 5, p. 676, doi. 10.1111/exd.14313
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- Publication type:
- Article
Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea.
- Published in:
- 2020
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- Publication type:
- letter
Stereotypic neutralizing V<sub>H</sub> antibodies against SARS-CoV-2 spike protein receptor binding domain in patients with COVID-19 and healthy individuals.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 578, p. 1, doi. 10.1126/scitranslmed.abd6990
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- Publication type:
- Article
Plasma vs. serum in circulating tumor DNA measurement: characterization by DNA fragment sizing and digital droplet polymerase chain reaction.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 4, p. 527, doi. 10.1515/cclm-2019-0896
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- Publication type:
- Article
Hb variants in Korea: effect on HbA<sub>1c</sub> using five routine methods.
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- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 8, p. 1234, doi. 10.1515/cclm-2016-0865
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- Publication type:
- Article
Clinical application of the Panbio™ COVID-19 Ag rapid test device and SSf-COVID19 kit for the detection of SARS-CoV-2 infection.
- Published in:
- BMC Research Notes, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13104-022-06226-6
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- Publication type:
- Article
Estimation of the Structural and Geomechanical Anisotropy in Fault Gouges Using 3D Micro-Computed Tomography (μ-CT).
- Published in:
- Sensors (14248220), 2020, v. 20, n. 17, p. 4706, doi. 10.3390/s20174706
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- Publication type:
- 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
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
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- Publication type:
- Article
638. Comparative Genomics of Mycoplasma pneumoniae Isolated From Children with Pneumonia: South Korea, 2010–2016.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S295, doi. 10.1093/ofid/ofz360.706
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- Publication type:
- Article
Effects of Earthquake on Behavior Characteristics of Fault Gouge in Time-History Analysis of Slope.
- Published in:
- Advances in Materials Science & Engineering, 2022, p. 1, doi. 10.1155/2022/2456807
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- 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
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- Publication type:
- Article
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
- Published in:
- Breast Cancer Research & Treatment, 2015, v. 151, n. 1, p. 157, doi. 10.1007/s10549-015-3377-4
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- Publication type:
- Article
A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
- Published in:
- Breast Cancer Research & Treatment, 2014, v. 146, n. 1, p. 63, doi. 10.1007/s10549-014-3006-7
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- Publication type:
- Article
Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population.
- Published in:
- Familial Cancer, 2009, v. 8, n. 4, p. 505, doi. 10.1007/s10689-009-9279-z
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- Publication type:
- Article
Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.
- Published in:
- 2015
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- Publication type:
- Letter
Relationship between hydraulic conductivity and occurrence of fault rocks in Yangsan fault zone, Korea.
- Published in:
- Bulletin of Engineering Geology & the Environment, 2022, v. 81, n. 9, p. 1, doi. 10.1007/s10064-022-02875-w
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- Publication type:
- Article
SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.
- Published in:
- 2021
- By:
- Publication type:
- case study
Clinical and genetic spectrum of GSD type 6 in Korea.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02750-1
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- Publication type:
- Article
Compassionate use of hzVSF‐v13 in two patients with severe COVID‐19.
- Published in:
- Journal of Medical Virology, 2020, v. 92, n. 11, p. 2371, doi. 10.1002/jmv.26063
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- Publication type:
- Article
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
- Published in:
- Pediatrics International, 2014, v. 56, n. 6, p. e88, doi. 10.1111/ped.12442
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- Publication type:
- Article
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia.
- Published in:
- Journal of Gastroenterology & Hepatology, 2024, v. 39, n. 5, p. 964, doi. 10.1111/jgh.16505
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- Publication type:
- Article
Determination of representative elementary volume of fault core materials by particle distribution analysis.
- Published in:
- Geosciences Journal, 2018, v. 22, n. 1, p. 105, doi. 10.1007/s12303-017-0033-5
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- Publication type:
- Article
Effect of particle shape on the shear strength of fault gouge.
- Published in:
- Geosciences Journal, 2016, v. 20, n. 3, p. 351, doi. 10.1007/s12303-015-0051-0
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- Publication type:
- Article
Phenotypic, immunologic, and clinical characteristics of patients with nontuberculous mycobacterial lung disease in Korea.
- Published in:
- 2013
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- Publication type:
- journal article
Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80867-0
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- Publication type:
- Article
In-depth blood proteome profiling analysis revealed distinct functional characteristics of plasma proteins between severe and non-severe COVID-19 patients.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-80120-8
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- Publication type:
- Article
Hereditary Non-polyposis Colorectal Cancer/Lynch Syndrome in Korean Patients with Endometrial Cancer.
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- Japanese Journal of Clinical Oncology, 2010, v. 40, n. 12, p. 1121, doi. 10.1093/jjco/hyq144
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- Publication type:
- Article
Disentangling of Malignancy from Benign Pheochromocytomas/Paragangliomas.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168413
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- Publication type:
- Article
The Impact of Methylenetetrahydrofolate Reductase C677T Polymorphism on Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplantation with Methotrexate Prophylaxis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0163998
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- Publication type:
- Article
Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2669, doi. 10.1002/ajmg.a.34246
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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:
- 2014
- By:
- Publication type:
- journal 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
Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy.
- Published in:
- Annals of Child Neurology, 2022, v. 30, n. 3, p. 127, doi. 10.26815/acn.2022.00171
- By:
- Publication type:
- Article
Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33928-z
- By:
- Publication type:
- Article
A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma.
- Published in:
- Case Reports in Endocrinology, 2018, p. 1, doi. 10.1155/2018/8657914
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- Publication type:
- Article
A Population-Based Analysis of BRCA1 / 2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
- Published in:
- Cancers, 2021, v. 13, n. 9, p. 2192, doi. 10.3390/cancers13092192
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- Publication type:
- 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
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- Publication type:
- Article
Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 1004, doi. 10.1002/humu.22839
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- Publication type:
- Article
Phase I clinical and pharmacokinetic/pharmacogenetic study of a triplet regimen of S-1/irinotecan/oxaliplatin in patients with metastatic colorectal or gastric cancer.
- Published in:
- Cancer Chemotherapy & Pharmacology, 2013, v. 72, n. 5, p. 953, doi. 10.1007/s00280-013-2272-0
- By:
- Publication type:
- Article
Epidemiologic Trends of Thalassemia, 2006–2018: A Nationwide Population-Based Study.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 9, p. 2289, doi. 10.3390/jcm11092289
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- Publication type:
- Article