Works by Ko, Jung Min
Results: 112
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
- Published in:
- 2009
- By:
- Publication type:
- journal article
TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.
- Published in:
- Oncology Reports, 2014, v. 32, n. 4, p. 1347, doi. 10.3892/or.2014.3379
- By:
- Publication type:
- Article
Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease‐Specific Growth Chart.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70028
- By:
- Publication type:
- Article
Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1791
- By:
- Publication type:
- Article
Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1677
- By:
- Publication type:
- Article
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1379
- By:
- Publication type:
- Article
Direct-Acting Antivirals and the Risk of Hepatitis B Reactivation in Hepatitis B and C Co-Infected Patients: A Systematic Review and Meta-Analysis.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 1957, doi. 10.3390/jpm12121957
- By:
- Publication type:
- Article
Direct-Acting Antivirals for HCV Treatment in Decompensated Liver Cirrhosis Patients: A Systematic Review and Meta-Analysis.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/jpm12091517
- By:
- Publication type:
- Article
Efficacy and safety of direct‐acting antiviral therapy for hepatitis C virus in elderly patients (≥65 years old): A systematic review and meta‐analysis.
- Published in:
- Journal of Viral Hepatitis, 2022, v. 29, n. 7, p. 496, doi. 10.1111/jvh.13679
- By:
- Publication type:
- Article
A risk scoring system to predict clinical events in chronic hepatitis B virus infection: A nationwide cohort study.
- Published in:
- Journal of Viral Hepatitis, 2022, v. 29, n. 2, p. 115, doi. 10.1111/jvh.13631
- By:
- Publication type:
- Article
Tenofovir disoproxil fumarate on the risk of hepatocellular carcinoma in chronic hepatitis B patients with failure to preceding treatments: A nationwide cohort study.
- Published in:
- Journal of Viral Hepatitis, 2021, v. 28, n. 8, p. 1150, doi. 10.1111/jvh.13530
- By:
- Publication type:
- Article
High level of medication adherence is required to lower mortality in patients with chronic hepatitis B taking entecavir: A nationwide cohort study.
- Published in:
- Journal of Viral Hepatitis, 2021, v. 28, n. 2, p. 353, doi. 10.1111/jvh.13418
- By:
- Publication type:
- Article
Challenges in endoscopic third ventriculostomy for patients with achondroplasia: a focus on third ventricle floor anatomy.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2024, v. 34, n. 5, p. 462, doi. 10.3171/2024.6.PEDS2472
- 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
Accuracy of Digital Breast Tomosynthesis for Detecting Breast Cancer in the Diagnostic Setting: A Systematic Review and Meta-Analysis.
- Published in:
- Korean Journal of Radiology, 2021, v. 22, n. 8, p. 1240, doi. 10.3348/kjr.2020.1227
- By:
- Publication type:
- Article
Enhanced extraction of bioactive compounds from propolis (Apis mellifera L.) using subcritical water.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42418-1
- By:
- Publication type:
- Article
Enhanced extraction of bioactive compounds from propolis (Apis mellifera L.) using subcritical water.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42418-1
- By:
- Publication type:
- Article
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
- By:
- Publication type:
- Article
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 213, doi. 10.1038/jhg.2015.2
- By:
- Publication type:
- Article
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25
- By:
- Publication type:
- Article
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 2, p. 73, doi. 10.1038/jhg.2012.135
- By:
- Publication type:
- Article
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 999, doi. 10.1007/s10038-008-0343-6
- By:
- Publication type:
- Article
Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 172, doi. 10.3390/genes12020172
- By:
- Publication type:
- Article
A 3‐Month‐Old Boy With Progressive Weakness.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.
- Published in:
- BMC Endocrine Disorders, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12902-024-01574-9
- By:
- Publication type:
- Article
Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
- Published in:
- Ophthalmic Genetics, 2015, v. 36, n. 3, p. 284, doi. 10.3109/13816810.2014.881510
- By:
- Publication type:
- Article
Genetic Syndromes Associated with Craniosynostosis.
- Published in:
- Journal of Korean Neurosurgical Society, 2016, v. 59, n. 3, p. 187, doi. 10.3340/jkns.2016.59.3.187
- By:
- Publication type:
- Article
Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02929-6
- By:
- Publication type:
- Article
Clinical evaluation and surgical intervention for diaphragmatic eventration mimicking peritoneopericardial hernia in a cat.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Treatment outcome and long-term stability of orthognathic surgery for facial asymmetry: A systematic review and meta-analysis.
- Published in:
- Korean Journal of Orthodontics, 2024, v. 54, n. 2, p. 89, doi. 10.4041/kjod23.194
- By:
- Publication type:
- Article
Development of disease‐specific growth charts for Korean children with Beckwith–Wiedemann syndrome.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 533, doi. 10.1111/cge.14488
- By:
- Publication type:
- Article
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 2, p. 237, doi. 10.1177/0883073816674095
- By:
- Publication type:
- Article
Association of aspirin and statin use with the risk of liver cancer in chronic hepatitis B: A nationwide population‐based study.
- Published in:
- Liver International, 2021, v. 41, n. 11, p. 2777, doi. 10.1111/liv.15011
- By:
- Publication type:
- Article
Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature.
- Published in:
- Photodermatology, Photoimmunology & Photomedicine, 2020, v. 36, n. 5, p. 401, doi. 10.1111/phpp.12568
- By:
- Publication type:
- Article
Time- and Dose-Dependent Association of Statin Use With Risk of Clinically Relevant New-Onset Diabetes Mellitus in Primary Prevention: A Nationwide Observational Cohort Study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2017, v. 20, n. 4, p. 263, doi. 10.5223/pghn.2017.20.4.263
- By:
- Publication type:
- Article
Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2016, v. 19, n. 1, p. 76, doi. 10.5223/pghn.2016.19.1.76
- By:
- Publication type:
- Article
Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.
- Published in:
- Clinical Endocrinology, 2010, v. 73, n. 1, p. 66, doi. 10.1111/j.1365-2265.2010.03782.x
- By:
- Publication type:
- Article
The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.
- Published in:
- Clinical Endocrinology, 2010, v. 72, n. 2, p. 196, doi. 10.1111/j.1365-2265.2009.03681.x
- By:
- Publication type:
- Article
Common exon 3 polymorphism of the GH receptor ( GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS).
- Published in:
- Clinical Endocrinology, 2009, v. 70, n. 1, p. 82, doi. 10.1111/j.1365-2265.2008.03418.x
- By:
- Publication type:
- Article
The relationship between high blood glucose and socio-economic position in childhood and adulthood in Korea: findings from the Korean National Health and Nutrition Examination, 2007–09.
- Published in:
- International Journal of Epidemiology, 2012, v. 41, n. 3, p. 733
- By:
- Publication type:
- Article
Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 1, p. 41, doi. 10.1159/000271915
- By:
- Publication type:
- Article
Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Upregulation of Human ST8Sia VI (α2,8-Sialyltransferase) Gene Expression by Physcion in SK-N-BE(2)-C Human Neuroblastoma Cells.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 8, p. 1246, doi. 10.3390/ijms17081246
- By:
- Publication type:
- Article
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
- Published in:
- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0546-4
- By:
- 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
- By:
- Publication type:
- Article