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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

American journal of human genetics, 2012-08, Vol.91 (2), p.343-348

2012

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Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population

Journal of human genetics, 2022-02, Vol.67 (2), p.71-77

2022

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Differential genetic susceptibility in diphasic and peak-dose dyskinesias in Parkinson's disease

Movement disorders, 2011-01, Vol.26 (1), p.73-79

2011

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Hereditary Fructose Intolerance Diagnosed in Adulthood

Gut and Liver, 2021, 15(1), , pp.142-145

2021

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Rates of Coinfection Between SARS-CoV-2 and Other Respiratory Viruses in Korea

Annals of Laboratory Medicine, 2022, 42(1), , pp.110-112

2022

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Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea

Emerging infectious diseases, 2020-10, Vol.26 (10), p.2497-2499

2020

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SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species

Annals of Laboratory Medicine, 2022, 42(2), , pp.213-248

2022

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Excess Accumulation of Lipid Impairs Insulin Sensitivity in Skeletal Muscle

International journal of molecular sciences, 2020-03, Vol.21 (6), p.1949

2020

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Determination of Clinical Characteristics of Mycobacterium kansasii -Derived Species by Reanalysis of Isolates Formerly Reported as M. kansasii

Annals of Laboratory Medicine, 2021, 41(5), , pp.463-468

2021

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The Pathogenic Role of Low Range Repeats in SCA17

PloS one, 2015-08, Vol.10 (8), p.e0135275-e0135275

2015

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Epidemiologic Trends of Thalassemia, 2006-2018: A Nationwide Population-Based Study

Journal of clinical medicine, 2022-04, Vol.11 (9), p.2289

2022

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Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019

Clinical infectious diseases, 2020-11, Vol.73 (9), p.e3002-e3008

2020

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Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis

World journal of gastroenterology : WJG, 2016-05, Vol.22 (20), p.4901-4907

2016

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Night‐time gastric acid suppression by tegoprazan compared to vonoprazan or esomeprazole

British journal of clinical pharmacology, 2022-07, Vol.88 (7), p.3288-3296

2022

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Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

American journal of human genetics, 2003-05, Vol.72 (5), p.1101-1116

2003

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FABP3-mediated membrane lipid saturation alters fluidity and induces ER stress in skeletal muscle with aging

Nature communications, 2020-11, Vol.11 (1), p.5661-5661, Article 5661

2020

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Clinical course of non-severe aplastic anemia in adults

International journal of hematology, 2010-06, Vol.91 (5), p.770-775

2010

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Viral Load Kinetics of MERS Coronavirus Infection

The New England journal of medicine, 2016-09, Vol.375 (13), p.1303-1305

2016

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Molecular characterization of D- Korean persons: development of a diagnostic strategy

Transfusion (Philadelphia, Pa.), 2005-03, Vol.45 (3), p.345-352

2005

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Liquid biopsy in pancreatic ductal adenocarcinoma: current status of circulating tumor cells and circulating tumor DNA

Molecular oncology, 2019-08, Vol.13 (8), p.1623-1650

2019

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Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

American journal of human genetics, 2003-12, Vol.73 (6), p.1302-1315

2003

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Insertion of c-Myc into Igh induces B-cell and plasma-cell neoplasms in mice

Cancer research (Chicago, Ill.), 2005-02, Vol.65 (4), p.1306-1315

2005

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Nature genetics, 2000-01, Vol.24 (1), p.84-87

2000

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Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.111-111, Article 111

2022

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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

Lancet neurology, 2011-10, Vol.10 (10), p.898-908

2011

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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population

Differential genetic susceptibility in diphasic and peak-dose dyskinesias in Parkinson's disease

Hereditary Fructose Intolerance Diagnosed in Adulthood

Rates of Coinfection Between SARS-CoV-2 and Other Respiratory Viruses in Korea

Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea

SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species

Excess Accumulation of Lipid Impairs Insulin Sensitivity in Skeletal Muscle

Determination of Clinical Characteristics of Mycobacterium kansasii -Derived Species by Reanalysis of Isolates Formerly Reported as M. kansasii

The Pathogenic Role of Low Range Repeats in SCA17

Epidemiologic Trends of Thalassemia, 2006-2018: A Nationwide Population-Based Study

Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019

Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis

Night‐time gastric acid suppression by tegoprazan compared to vonoprazan or esomeprazole

Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

FABP3-mediated membrane lipid saturation alters fluidity and induces ER stress in skeletal muscle with aging

Clinical course of non-severe aplastic anemia in adults

Viral Load Kinetics of MERS Coronavirus Infection

Molecular characterization of D- Korean persons: development of a diagnostic strategy

Liquid biopsy in pancreatic ductal adenocarcinoma: current status of circulating tumor cells and circulating tumor DNA

Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

Insertion of c-Myc into Igh induces B-cell and plasma-cell neoplasms in mice

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

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