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The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant

International journal of molecular sciences, 2024-10, Vol.25 (19), p.10327

2024

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A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B

International journal of molecular sciences, 2024-09, Vol.25 (18), p.9823

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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The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant

International journal of molecular sciences, 2024-04, Vol.25 (7), p.3701

2024

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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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Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e862-n/a

2019

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Novel Biphenyl-Oxidizing Bacteria and Dioxygenase Genes from a Korean Tidal Mudflat

Applied and Environmental Microbiology, 2011-06, Vol.77 (11), p.3888-3891

2011

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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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Chromosome abnormalities in T-cell acute lymphoblastic leukemia in Korea

International journal of hematology, 2014-03, Vol.99 (3), p.279-287

2014

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The capacity of wastewater treatment plants drives bacterial community structure and its assembly

Scientific reports, 2019-10, Vol.9 (1), p.14809-9, Article 14809

2019

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A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy

Clinica chimica acta, 2020-07, Vol.506, p.50-54

2020

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A novel EPB41 p.Trp704 mutation in a Korean patient with hereditary elliptocytosis: a case report

Hematology (Luxembourg), 2020-12, Vol.25 (1), p.321-326

2020

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Distribution of somatic mutations of cancer-related genes according to microsatellite instability status in Korean gastric cancer

Medicine (Baltimore), 2017-06, Vol.96 (25), p.e7224-e7224

2017

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A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia

Journal of Alzheimer's disease, 2023-01, Vol.93 (2), p.403-409

2023

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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Annals of Laboratory Medicine, 2019, 39(3), , pp.299-310

2019

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Prosthecobacter algae sp. nov., isolated from activated sludge using algal metabolites

International journal of systematic and evolutionary microbiology, 2014-02, Vol.64 (Pt 2), p.663-667

2014

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Combined Group I and III ABO Discrepancies in Multiple Myeloma with IgG-Lambda Type: A Case Report

Medical principles and practice, 2017-01, Vol.26 (1), p.90-92

2017

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Ochrobactrum daejeonense sp. nov., a nitrate-reducing bacterium isolated from sludge of a leachate treatment plant

International journal of systematic and evolutionary microbiology, 2011-11, Vol.61 (Pt 11), p.2690-2696

2011

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Nocardioides daeguensis sp. nov., a nitrate-reducing bacterium isolated from activated sludge of an industrial wastewater treatment plant

International journal of systematic and evolutionary microbiology, 2013-10, Vol.63 (Pt 10), p.3727-3732

2013

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Using GA-Ridge regression to select hydro-geological parameters influencing groundwater pollution vulnerability

Environmental monitoring and assessment, 2012-11, Vol.184 (11), p.6637-6645

2012

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Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency

Annals of Laboratory Medicine, 2017, 37(2), , pp.108-116

2017

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Evaluation of the Performance of Two Point-of-Care Analyzers for Total Cholesterol, Triglyceride, and High-Density Lipoprotein Cholesterol Analysis

Clinical laboratory (Heidelberg), 2016-01, Vol.62 (7), p.1201

2016

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Brevibacterium daeguense sp. nov., a nitrate-reducing bacterium isolated from a 4-chlorophenol enrichment culture

International journal of systematic and evolutionary microbiology, 2013, Vol.63 (Pt 1), p.152-157

2013

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Founder Haplotype Analysis of Fanconi Anemia in the Korean Population Finds Common Ancestral Haplotypes for a FANCG Variant

Annals of human genetics, 2015-05, Vol.79 (3), p.153-161

2015

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The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant

A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B

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

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant

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

Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family

Novel Biphenyl-Oxidizing Bacteria and Dioxygenase Genes from a Korean Tidal Mudflat

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

Chromosome abnormalities in T-cell acute lymphoblastic leukemia in Korea

The capacity of wastewater treatment plants drives bacterial community structure and its assembly

A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy

A novel EPB41 p.Trp704 mutation in a Korean patient with hereditary elliptocytosis: a case report

Distribution of somatic mutations of cancer-related genes according to microsatellite instability status in Korean gastric cancer

A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Prosthecobacter algae sp. nov., isolated from activated sludge using algal metabolites

Combined Group I and III ABO Discrepancies in Multiple Myeloma with IgG-Lambda Type: A Case Report

Ochrobactrum daejeonense sp. nov., a nitrate-reducing bacterium isolated from sludge of a leachate treatment plant

Nocardioides daeguensis sp. nov., a nitrate-reducing bacterium isolated from activated sludge of an industrial wastewater treatment plant

Using GA-Ridge regression to select hydro-geological parameters influencing groundwater pollution vulnerability

Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency

Evaluation of the Performance of Two Point-of-Care Analyzers for Total Cholesterol, Triglyceride, and High-Density Lipoprotein Cholesterol Analysis

Brevibacterium daeguense sp. nov., a nitrate-reducing bacterium isolated from a 4-chlorophenol enrichment culture

Founder Haplotype Analysis of Fanconi Anemia in the Korean Population Finds Common Ancestral Haplotypes for a FANCG Variant

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