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 by Ko, Jung Min
Results: 118
1
2
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
3
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
4
Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
5
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
6
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
7
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
8
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
9
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
10
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
11
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
12
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
13
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
14
Ultrasound-Responsive Liposomes for Targeted Drug Delivery Combined with Focused Ultrasound.
- Published in:
- Pharmaceutics, 2022, v. 14, n. 7, p. N.PAG, doi. 10.3390/pharmaceutics14071314
- By:
- Publication type:
- Article
15
Enhanced apigenin yield from parsley via synergistic subcritical-water extraction with pulsed electric field and intense pulsed light pretreatments: Extraction of apigenin from parsley: M.-J. Ko et al.
- Published in:
- Food Science & Biotechnology, 2025, v. 34, n. 5, p. 1183, doi. 10.1007/s10068-024-01760-4
- By:
- Publication type:
- Article
16
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
17
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
18
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
19
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
20
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
21
A 3‐Month‐Old Boy With Progressive Weakness.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
22
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
23
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
24
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
25
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
26
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
27
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
28
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
29
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
30
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
31
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
32
Craft Production and Social Change in Mumun Pottery Period Korea.
- Published in:
- Asian Perspectives: Journal of Archeology for Asia & the Pacific, 2006, v. 45, n. 2, p. 159, doi. 10.1353/asi.2006.0019
- By:
- Publication type:
- Article
33
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
34
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
35
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
36
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
37
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
38
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
39
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
40
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
41
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
42
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01252-w
- By:
- Publication type:
- Article
43
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
44
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
45
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
46
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
47
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
48
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
49
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
50
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