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Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases

Current issues in molecular biology, 2024-05, Vol.46 (5), p.5010-5022

2024

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Exploring the antibiotic resistome in activated sludge and anaerobic digestion sludge in an urban wastewater treatment plant via metagenomic analysis

The Journal of Microbiology, 2020, 58(2), , pp.123-130

2020

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Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review

Genes, 2023-01, Vol.14 (1), p.200

2023

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Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User’s Point of View

International journal of genomics, 2022-10, Vol.2022, p.1-6

2022

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Clinical and Genetic Characteristics of Early and Advanced Gastric Cancer

Current issues in molecular biology, 2024-02, Vol.46 (2), p.1208-1218

2024

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Clinical Evaluation of BioFire COVID-19 Test, BioFire Respiratory Panel 2.1, and Cepheid Xpert Xpress SARS-CoV-2 Assays for Sample-to-Answer Detection of SARS-CoV-2

Genes, 2023-01, Vol.14 (1), p.233

2023

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Increased nitrous oxide accumulation by bioelectrochemical denitrification under autotrophic conditions: Kinetics and expression of denitrification pathway genes

Water research (Oxford), 2013-12, Vol.47 (19), p.7087-7097

2013

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STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review

Genes, 2023-10, Vol.14 (10), p.1925

2023

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Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination

Diagnostics (Basel), 2023-02, Vol.13 (4), p.770

2023

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Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations

Journal of dermatology, 2015-09, Vol.42 (9), p.867-873

2015

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Discovery of commonly existing anode biofilm microbes in two different wastewater treatment MFCs using FLX Titanium pyrosequencing

Applied microbiology and biotechnology, 2010-08, Vol.87 (6), p.2335-2343

2010

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Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report

Medicina (Kaunas, Lithuania), 2021-03, Vol.57 (3), p.281

2021

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Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

Genes, 2022-11, Vol.13 (11), p.2108

2022

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Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy

Genes, 2022-09, Vol.13 (10), p.1726

2022

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Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients

Journal of clinical medicine, 2021-05, Vol.10 (9), p.2038

2021

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Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression

Diagnostics (Basel), 2021-03, Vol.11 (3), p.416

2021

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Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

BMC medical genetics, 2017-03, Vol.18 (1), p.38-38, Article 38

2017

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Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients

Molecular medicine reports, 2016-09, Vol.14 (3), p.2439-2448

2016

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Evaluating the Performance of Oligonucleotide Microarrays for Bacterial Strains with Increasing Genetic Divergence from the Reference Strain

Applied and Environmental Microbiology, 2010-05, Vol.76 (9), p.2980-2988

2010

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ISTS/I and IPUDP/I Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review

Genes, 2023-10, Vol.14 (10)

2023

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Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications

Nature biotechnology, 2011-05, Vol.29 (5), p.415-420

2011

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Targeted Panel Sequencing Identifies an Intronic c.5225-3CG Variant of the IFBN1/I Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

Genes, 2022-11, Vol.13 (11)

2022

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Regional effects on chimera formation in 454 pyrosequenced amplicons from a mock community

The Journal of Microbiology, 2014, 52(7), , pp.566-573

2014

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Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms

Molecular diagnosis & therapy, 2020-10, Vol.24 (5), p.579-592

2020

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Georgenia daeguensis sp. nov., isolated from 4-chlorophenol enrichment culture

International journal of systematic and evolutionary microbiology, 2012-07, Vol.62 (Pt 7), p.1703-1709

2012

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Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases

Exploring the antibiotic resistome in activated sludge and anaerobic digestion sludge in an urban wastewater treatment plant via metagenomic analysis

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review

Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User’s Point of View

Clinical and Genetic Characteristics of Early and Advanced Gastric Cancer

Clinical Evaluation of BioFire COVID-19 Test, BioFire Respiratory Panel 2.1, and Cepheid Xpert Xpress SARS-CoV-2 Assays for Sample-to-Answer Detection of SARS-CoV-2

Increased nitrous oxide accumulation by bioelectrochemical denitrification under autotrophic conditions: Kinetics and expression of denitrification pathway genes

STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review

Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination

Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations

Discovery of commonly existing anode biofilm microbes in two different wastewater treatment MFCs using FLX Titanium pyrosequencing

Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy

Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients

Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression

Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients

Evaluating the Performance of Oligonucleotide Microarrays for Bacterial Strains with Increasing Genetic Divergence from the Reference Strain

ISTS/I and IPUDP/I Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review

Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications

Targeted Panel Sequencing Identifies an Intronic c.5225-3CG Variant of the IFBN1/I Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

Regional effects on chimera formation in 454 pyrosequenced amplicons from a mock community

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms

Georgenia daeguensis sp. nov., isolated from 4-chlorophenol enrichment culture

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