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
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
3
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
4
Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
5
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
6
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
7
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
8
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
9
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
10
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
11
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
12
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
13
Hyperammonemic Encephalopathy Mimicking Ornithine Transcarbamylase Deficiency in Fibrolamellar Hepatocellular Carcinoma: Successful Treatment with Continuous Venovenous Hemofiltration and Ammonia Scavengers.
- Published in:
- Cancer Research & Treatment, 2021, v. 53, n. 1, p. 283, doi. 10.4143/crt.2020.575
- By:
- Publication type:
- Article
14
Association between Metformin Use and Survival in Nonmetastatic Rectal Cancer Treated with a Curative Resection: A Nationwide Population Study.
- Published in:
- Cancer Research & Treatment, 2017, v. 49, n. 1, p. 29, doi. 10.4143/crt.2016.128
- By:
- Publication type:
- Article
15
Correction to: Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.
- Published in:
- 2025
- By:
- Publication type:
- Correction Notice
16
Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 8, p. 3479, doi. 10.1007/s00431-024-05611-6
- By:
- Publication type:
- Article
17
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
18
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
19
A 3‐Month‐Old Boy With Progressive Weakness.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
20
Flap Extension Technique Using Intrasocket Granulation Tissue in Peri-Implant Osseous Defect: Case Series.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
21
Clinical evaluation and surgical intervention for diaphragmatic eventration mimicking peritoneopericardial hernia in a cat.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
22
Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80867-0
- By:
- Publication type:
- Article
23
Subcritical water extraction of bioactive compounds from Orostachys japonicus A. Berger (Crassulaceae).
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67508-2
- By:
- Publication type:
- Article
24
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
25
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
26
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
27
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
28
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
29
Influence of catch-up growth on IGFBP-2 levels and association between IGFBP-2 and cardiovascular risk factors in Korean children born SGA.
- Published in:
- Endocrine Journal, 2012, v. 59, n. 8, p. 725, doi. 10.1507/endocrj.ej12-0080
- By:
- Publication type:
- Article
30
Association between insulin-like growth factor binding protein-2 levels and cardiovascular risk factors in Korean children.
- Published in:
- Endocrine Journal, 2012, v. 59, n. 4, p. 335, doi. 10.1507/endocrj.ej11-0358
- By:
- Publication type:
- Article
31
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
32
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
33
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
34
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
35
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
36
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.990015
- By:
- Publication type:
- Article
37
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
38
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
39
Use of big data for evidence-based healthcare.
- Published in:
- Journal of the Korean Medical Association / Taehan Uisa Hyophoe Chi, 2014, v. 57, n. 5, p. 413, doi. 10.5124/jkma.2014.57.5.413
- By:
- Publication type:
- Article
40
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
41
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
42
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
43
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
44
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
45
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
46
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
47
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
48
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
- Published in:
- 2019
- By:
- Publication type:
- journal article
49
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
50
Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome.
- Published in:
- Cytogenetic & Genome Research, 2019, v. 158, n. 4, p. 184, doi. 10.1159/000502045
- By:
- Publication type:
- Article