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
Works matching AU Ko, Jung Min
Results: 117
1
2
Anthocyanin Structure and pH Dependent Extraction Characteristics from Blueberries (Vaccinium corymbosum) and Chokeberries (Aronia melanocarpa) in Subcritical Water State.
- Published in:
- Foods, 2021, v. 10, n. 3, p. 527, doi. 10.3390/foods10030527
- By:
- Publication type:
- Article
3
Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 6, p. 379, doi. 10.6065/apem.2448008.004
- By:
- Publication type:
- Article
4
Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 2, p. 90, doi. 10.6065/apem.2244114.057
- By:
- Publication type:
- Article
5
Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 4, p. 220, doi. 10.6065/apem.2018.23.4.220
- By:
- Publication type:
- Article
6
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
7
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
8
The Incidence and Care Cascade of the Hepatitis C Virus in Korea.
- Published in:
- Gut & Liver, 2023, v. 17, n. 6, p. 926, doi. 10.5009/gnl220322
- By:
- Publication type:
- Article
9
Radiographic Factors for Progression of Thoracolumbar Kyphosis in Achondroplasia Patients after Walking Age: A Generalized Estimating Equation Analysis.
- Published in:
- Clinics in Orthopedic Surgery, 2022, v. 14, n. 3, p. 410, doi. 10.4055/cios22046
- By:
- Publication type:
- Article
10
Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach.
- Published in:
- Clinics in Orthopedic Surgery, 2020, v. 12, n. 4, p. 417, doi. 10.4055/cios20060
- By:
- Publication type:
- Article
11
Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.
- Published in:
- Clinics in Orthopedic Surgery, 2019, v. 11, n. 4, p. 474, doi. 10.4055/cios.2019.11.4.474
- By:
- Publication type:
- Article
12
Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders.
- Published in:
- PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0290450
- By:
- Publication type:
- Article
13
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
14
Comparison of anti-inflammatory potential of four different dibenzocyclooctadiene lignans in microglia; action via activation of PKA and Nrf-2 signaling and inhibition of MAPK/STAT/NF-κB pathways.
- Published in:
- Molecular Nutrition & Food Research, 2014, v. 58, n. 4, p. 738, doi. 10.1002/mnfr.201300445
- By:
- Publication type:
- Article
15
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
16
Synthesis of Polythiophenes with Electron-Donating Side-Chain and their Application to Organic Thin-Film Transistors.
- Published in:
- Molecular Crystals & Liquid Crystals, 2009, v. 504, n. 1, p. 52, doi. 10.1080/15421400902939116
- By:
- Publication type:
- Article
17
Pet Fabric/Poly(3,4-Ethylenedioxythiophene) Composite with High Electrical Conductivity for EMI Shielding.
- Published in:
- Molecular Crystals & Liquid Crystals, 2007, v. 464, n. 1, p. 109, doi. 10.1080/15421400601030506
- By:
- Publication type:
- Article
18
Application of Pulsed Electric Field as a Pre-Treatment for Subcritical Water Extraction of Quercetin from Onion Skin.
- Published in:
- Foods, 2022, v. 11, n. 8, p. 1069, doi. 10.3390/foods11081069
- By:
- Publication type:
- Article
19
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
20
Thermal decomposition and oxidation of β-caryophyllene in black pepper during subcritical water extraction.
- Published in:
- Food Science & Biotechnology, 2021, v. 30, n. 12, p. 1527, doi. 10.1007/s10068-021-00983-z
- By:
- Publication type:
- Article
21
Recovery of hesperidin and narirutin from waste Citrus unshiu peel using subcritical water extraction aided by pulsed electric field treatment.
- Published in:
- Food Science & Biotechnology, 2021, v. 30, n. 2, p. 217, doi. 10.1007/s10068-020-00862-z
- By:
- Publication type:
- Article
22
Pilot-scale subcritical-water extraction of nodakenin and decursin from Angelica gigas Nakai.
- Published in:
- Food Science & Biotechnology, 2020, v. 29, n. 5, p. 631, doi. 10.1007/s10068-019-00698-2
- By:
- Publication type:
- Article
23
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
- Published in:
- Annals of Clinical & Laboratory Science, 2017, v. 47, n. 2, p. 213
- By:
- Publication type:
- Article
24
First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 5, p. 544
- By:
- Publication type:
- Article
25
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 4, p. 360
- By:
- Publication type:
- Article
26
Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 1, p. 97
- By:
- Publication type:
- Article
27
A Novel NOTCH2 Mutation Identified in a Korean Family with Hajdu-Cheney Syndrome Showing Phenotypic Diversity.
- Published in:
- Annals of Clinical & Laboratory Science, 2015, v. 45, n. 1, p. 110
- By:
- Publication type:
- Article
28
First Identified Korean Family with Sotos Syndrome Caused by a Novel Intragenic Mutation in NSD1.
- Published in:
- Annals of Clinical & Laboratory Science, 2014, v. 44, n. 2, p. 228
- By:
- Publication type:
- Article
29
Force-activated separation devices: a preventive strategy for intravenous line disconnection in canine patients.
- Published in:
- Frontiers in Veterinary Science, 2025, p. 1, doi. 10.3389/fvets.2025.1547277
- By:
- Publication type:
- Article
30
Clinical outcomes of the implementation of acute care surgery system in South Korea: a multi‐centre, retrospective cohort study.
- Published in:
- ANZ Journal of Surgery, 2025, v. 95, n. 3, p. 416, doi. 10.1111/ans.19366
- By:
- Publication type:
- Article
31
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
32
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
33
A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B.
- Published in:
- Annals of Laboratory Medicine, 2024, v. 44, n. 6, p. 625, doi. 10.3343/alm.2024.0140
- By:
- Publication type:
- Article
34
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 6, p. 638, doi. 10.3343/alm.2023.43.6.638
- By:
- Publication type:
- Article
35
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 3, p. 280, doi. 10.3343/alm.2023.43.3.280
- By:
- Publication type:
- Article
36
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 6, p. 668, doi. 10.3343/alm.2022.42.6.668
- By:
- Publication type:
- Article
37
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 384, doi. 10.3343/alm.2022.42.3.384
- By:
- Publication type:
- Article
38
Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 373, doi. 10.3343/alm.2022.42.3.373
- By:
- Publication type:
- Article
39
Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2021, v. 41, n. 4, p. 401, doi. 10.3343/alm.2021.41.4.401
- By:
- Publication type:
- Article
40
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
41
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
- Published in:
- Annals of Laboratory Medicine, 2017, v. 37, n. 3, p. 261, doi. 10.3343/alm.2017.37.3.261
- By:
- Publication type:
- Article
42
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
43
American consumers' perception and acceptance of an ethnic food with strong flavor: a case study of Kimchi with varying levels of red pepper and fish sauce.
- Published in:
- Journal of the Science of Food & Agriculture, 2020, v. 100, n. 6, p. 2348, doi. 10.1002/jsfa.10106
- By:
- Publication type:
- Article
44
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
45
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1033, doi. 10.1002/ajmg.a.36884
- By:
- Publication type:
- Article
46
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.
- Published in:
- 2022
- By:
- Publication type:
- journal article
47
DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data.
- Published in:
- BMC Bioinformatics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12859-018-2409-6
- By:
- Publication type:
- Article
48
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
49
Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 5, p. 665
- By:
- Publication type:
- Article
50
A 3‐Month‐Old Boy With Progressive Weakness.
- Published in:
- 2018
- By:
- Publication type:
- Case Study