Found: 40
Select item for more details and to access through your institution.
A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical Implications.
- Published in:
- Nutrients, 2021, v. 13, n. 9, p. 3162, doi. 10.3390/nu13093162
- By:
- Publication type:
- Article
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 222, doi. 10.1038/jhg.2012.13
- By:
- Publication type:
- Article
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 212, doi. 10.1038/jhg.2011.139
- By:
- Publication type:
- Article
Short tandem repeat expansions in cortical layer‐specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.
- Published in:
- Psychiatry & Clinical Neurosciences, 2024, v. 78, n. 7, p. 405, doi. 10.1111/pcn.13676
- By:
- Publication type:
- Article
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1578, doi. 10.3390/genes12101578
- By:
- Publication type:
- Article
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1308, doi. 10.3390/genes12091308
- By:
- Publication type:
- Article
Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database.
- Published in:
- Transfusion, 2024, v. 64, n. 1, p. 19, doi. 10.1111/trf.17608
- By:
- Publication type:
- Article
The novel missense variant c.350G>T on the ABO*B.01 allele associated with a B<sub>el</sub> phenotype.
- Published in:
- Transfusion, 2020, v. 60, n. 10, p. E36, doi. 10.1111/trf.16033
- By:
- Publication type:
- Article
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.670608
- By:
- Publication type:
- Article
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 2, p. 150, doi. 10.1111/cge.14523
- By:
- Publication type:
- Article
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038
- By:
- Publication type:
- Article
Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 3, p. 160, doi. 10.1111/ahg.12298
- By:
- Publication type:
- Article
Evaluation of the Kaira COVID-19/Flu/RSV Detection Kit for detection of SARS-CoV-2, influenza A/B, and respiratory syncytial virus: A comparative study with the PowerChek SARS-CoV-2, influenza A&B, RSV Multiplex Real-time PCR Kit.
- Published in:
- PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278530
- By:
- Publication type:
- Article
Clinical and genetic analyses of patients with lateralized overgrowth.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01362-1
- By:
- Publication type:
- Article
A new phenotype of MT-ND6 gene mutation for Leber's hereditary optic neuropathy.
- Published in:
- 2021
- By:
- Publication type:
- letter
Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 6, p. 1022, doi. 10.3390/diagnostics11061022
- By:
- Publication type:
- Article
Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 8, p. 530, doi. 10.3390/diagnostics10080530
- By:
- Publication type:
- Article
Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.836954
- By:
- Publication type:
- Article
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing.
- Published in:
- Journal of Clinical Laboratory Analysis, 2024, v. 38, n. 1/2, p. 1, doi. 10.1002/jcla.25009
- By:
- Publication type:
- Article
Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies.
- Published in:
- Children, 2023, v. 10, n. 10, p. 1673, doi. 10.3390/children10101673
- By:
- Publication type:
- Article
Respiratory viral infections during the first 28 days after transplantation in pediatric hematopoietic stem cell transplant recipients.
- Published in:
- Clinical Transplantation, 2012, v. 26, n. 5, p. 736, doi. 10.1111/j.1399-0012.2012.01607.x
- By:
- Publication type:
- Article
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01085
- By:
- Publication type:
- Article
Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases.
- Published in:
- Transfusion Medicine & Hemotherapy, 2022, v. 49, n. 2, p. 88, doi. 10.1159/000517565
- By:
- Publication type:
- Article
Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 9, p. 1925, doi. 10.1111/jog.14033
- By:
- Publication type:
- Article
Clinicopathologic characteristics of double primary endometrial and colorectal cancers in a single institution.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2018, v. 44, n. 5, p. 944, doi. 10.1111/jog.13603
- By:
- Publication type:
- Article
Clinical Utility of Plasma Cell-Free DNA EGFR Mutation Analysis in Treatment-Naïve Stage IV Non-Small Cell Lung Cancer Patients.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041144
- By:
- Publication type:
- Article
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 6, p. 361, doi. 10.1111/ahg.12483
- By:
- Publication type:
- Article
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1462, doi. 10.1002/ajmg.a.35357
- By:
- Publication type:
- Article
Hereditary gene mutations in Korean patients with isolated erythrocytosis.
- Published in:
- Annals of Hematology, 2014, v. 93, n. 6, p. 931, doi. 10.1007/s00277-014-2006-3
- By:
- Publication type:
- Article
Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Serum 5-Hydroxyindoleacetic Acid and Ratio of 5-Hydroxyindoleacetic Acid to Serotonin as Metabolomics Indicators for Acute Oxidative Stress and Inflammation in Vancomycin-Associated Acute Kidney Injury.
- Published in:
- Antioxidants, 2021, v. 10, n. 6, p. 895, doi. 10.3390/antiox10060895
- By:
- Publication type:
- Article
Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1838
- By:
- Publication type:
- Article
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.947
- By:
- Publication type:
- Article
Two novel mutations in TTN of a patient with congenital myopathy: A case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.866
- By:
- Publication type:
- Article
Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-49131-z
- By:
- Publication type:
- Article
Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47645-0
- By:
- Publication type:
- Article
Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01053-3
- By:
- Publication type:
- Article