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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
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
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- 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
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- 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
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- 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
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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
- By:
- Publication type:
- Report
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
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- 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
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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.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 8, p. 1246, doi. 10.3390/ijms17081246
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- Publication type:
- Article
Advancing orphan drug development for rare diseases.
- Published in:
- Clinical & Experimental Pediatrics, 2024, v. 67, n. 7, p. 356, doi. 10.3345/cep.2023.01109
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- 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
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- 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
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- 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
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- Publication type:
- Article
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
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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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Annals of Laboratory Medicine, 2021, v. 41, n. 4, p. 401, doi. 10.3343/alm.2021.41.4.401
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- Publication type:
- Article
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
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
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
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
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
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- Publication type:
- Article
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
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- Publication type:
- Article
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
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- 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
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- Publication type:
- Article
Gorham-Stout Syndrome with Focal Segmental Glomerulosclerosis: A Case Report.
- Published in:
- Childhood Kidney Diseases, 2020, v. 24, n. 2, p. 120, doi. 10.3339/jkspn.2020.24.2.120
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- Publication type:
- 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
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- Publication type:
- Article
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
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- Publication type:
- Article
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
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
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- Publication type:
- Article
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
- Published in:
- 2019
- By:
- Publication type:
- journal article
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
Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.
- Published in:
- Pediatric Allergy, Immunology & Pulmonology, 2021, v. 34, n. 2, p. 83, doi. 10.1089/ped.2021.0029
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- Publication type:
- Article
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
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- Publication type:
- Article
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
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
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
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
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
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
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