Works matching AU Ko, Jung Min
Results: 116
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
- Published in:
- 2009
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- Publication type:
- journal article
Force-activated separation devices: a preventive strategy for intravenous line disconnection in canine patients.
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- Frontiers in Veterinary Science, 2025, p. 1, doi. 10.3389/fvets.2025.1547277
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- Publication type:
- Article
Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
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- Ophthalmic Genetics, 2015, v. 36, n. 3, p. 284, doi. 10.3109/13816810.2014.881510
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- Publication type:
- Article
Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency.
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- Hormone Research in Paediatrics, 2010, v. 73, n. 1, p. 41, doi. 10.1159/000271915
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- Publication type:
- Article
Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
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- Genes, 2021, v. 12, n. 2, p. 172, doi. 10.3390/genes12020172
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- Publication type:
- Article
Upregulation of Human ST8Sia VI (α2,8-Sialyltransferase) Gene Expression by Physcion in SK-N-BE(2)-C Human Neuroblastoma Cells.
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- International Journal of Molecular Sciences, 2016, v. 17, n. 8, p. 1246, doi. 10.3390/ijms17081246
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- Article
Application of Pulsed Electric Field as a Pre-Treatment for Subcritical Water Extraction of Quercetin from Onion Skin.
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- Foods, 2022, v. 11, n. 8, p. 1069, doi. 10.3390/foods11081069
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- 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
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- Publication type:
- journal article
Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenita.
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- Pediatric Transplantation, 2021, v. 25, n. 2, p. 1, doi. 10.1111/petr.13802
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- Publication type:
- Article
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01252-w
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- Publication type:
- Article
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0921-9
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- Publication type:
- Article
A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B.
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- Annals of Laboratory Medicine, 2024, v. 44, n. 6, p. 625, doi. 10.3343/alm.2024.0140
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- Publication type:
- Article
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
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- Annals of Laboratory Medicine, 2023, v. 43, n. 6, p. 638, doi. 10.3343/alm.2023.43.6.638
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- Publication type:
- Article
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
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- Annals of Laboratory Medicine, 2023, v. 43, n. 3, p. 280, doi. 10.3343/alm.2023.43.3.280
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- Publication type:
- Article
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
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- Annals of Laboratory Medicine, 2022, v. 42, n. 6, p. 668, doi. 10.3343/alm.2022.42.6.668
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- Publication type:
- Article
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
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- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 384, doi. 10.3343/alm.2022.42.3.384
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- Publication type:
- Article
Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.
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- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 373, doi. 10.3343/alm.2022.42.3.373
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- Publication type:
- Article
Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome.
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- Annals of Laboratory Medicine, 2021, v. 41, n. 4, p. 401, doi. 10.3343/alm.2021.41.4.401
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- Article
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
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- Annals of Laboratory Medicine, 2017, v. 37, n. 3, p. 261, doi. 10.3343/alm.2017.37.3.261
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- Publication type:
- Article
A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth.
- Published in:
- 2007
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- Publication type:
- Report
Treatment outcome and long-term stability of orthognathic surgery for facial asymmetry: A systematic review and meta-analysis.
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- Korean Journal of Orthodontics, 2024, v. 54, n. 2, p. 89, doi. 10.4041/kjod23.194
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- Publication type:
- Article
Radiographic Factors for Progression of Thoracolumbar Kyphosis in Achondroplasia Patients after Walking Age: A Generalized Estimating Equation Analysis.
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- Clinics in Orthopedic Surgery, 2022, v. 14, n. 3, p. 410, doi. 10.4055/cios22046
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- Publication type:
- Article
Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach.
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- Clinics in Orthopedic Surgery, 2020, v. 12, n. 4, p. 417, doi. 10.4055/cios20060
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- Publication type:
- Article
Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.
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- Clinics in Orthopedic Surgery, 2019, v. 11, n. 4, p. 474, doi. 10.4055/cios.2019.11.4.474
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- Publication type:
- Article
Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.
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- Pediatric Allergy, Immunology & Pulmonology, 2021, v. 34, n. 2, p. 83, doi. 10.1089/ped.2021.0029
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- Publication type:
- Article
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
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- Journal of Child Neurology, 2017, v. 32, n. 2, p. 237, doi. 10.1177/0883073816674095
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- Publication type:
- Article
DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data.
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- BMC Bioinformatics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12859-018-2409-6
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- Publication type:
- Article
Association of aspirin and statin use with the risk of liver cancer in chronic hepatitis B: A nationwide population‐based study.
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- Liver International, 2021, v. 41, n. 11, p. 2777, doi. 10.1111/liv.15011
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- Publication type:
- Article
Advancing orphan drug development for rare diseases.
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- Clinical & Experimental Pediatrics, 2024, v. 67, n. 7, p. 356, doi. 10.3345/cep.2023.01109
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- Publication type:
- Article
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature.
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- Photodermatology, Photoimmunology & Photomedicine, 2020, v. 36, n. 5, p. 401, doi. 10.1111/phpp.12568
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- Publication type:
- Article
Anthocyanin Structure and pH Dependent Extraction Characteristics from Blueberries (Vaccinium corymbosum) and Chokeberries (Aronia melanocarpa) in Subcritical Water State.
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- Foods, 2021, v. 10, n. 3, p. 527, doi. 10.3390/foods10030527
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- Publication type:
- Article
Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study.
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- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 6, p. 379, doi. 10.6065/apem.2448008.004
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- Publication type:
- Article
Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.
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- Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 2, p. 90, doi. 10.6065/apem.2244114.057
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- Publication type:
- Article
Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy.
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- Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 4, p. 220, doi. 10.6065/apem.2018.23.4.220
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- Publication type:
- Article
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.
- Published in:
- 2014
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- Publication type:
- Case Study
A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report.
- Published in:
- 2022
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- Publication type:
- Case Study
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
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- Publication type:
- Article
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.990015
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- Publication type:
- Article
Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.
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- Clinical Endocrinology, 2010, v. 73, n. 1, p. 66, doi. 10.1111/j.1365-2265.2010.03782.x
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- 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.
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- Clinical Endocrinology, 2010, v. 72, n. 2, p. 196, doi. 10.1111/j.1365-2265.2009.03681.x
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- 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
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- 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.
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- Journal of Viral Hepatitis, 2022, v. 29, n. 7, p. 496, doi. 10.1111/jvh.13679
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- Publication type:
- Article
A risk scoring system to predict clinical events in chronic hepatitis B virus infection: A nationwide cohort study.
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- Journal of Viral Hepatitis, 2022, v. 29, n. 2, p. 115, doi. 10.1111/jvh.13631
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- 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.
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- Journal of Viral Hepatitis, 2021, v. 28, n. 8, p. 1150, doi. 10.1111/jvh.13530
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- 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.
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- Journal of Viral Hepatitis, 2021, v. 28, n. 2, p. 353, doi. 10.1111/jvh.13418
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- Publication type:
- Article
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
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- Article
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
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- Journal of Human Genetics, 2015, v. 60, n. 4, p. 213, doi. 10.1038/jhg.2015.2
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- Publication type:
- Article
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25
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- Publication type:
- Article