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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 atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2017, v. 22, n. 3, p. 203, doi. 10.6065/apem.2017.22.3.203
- By:
- Publication type:
- Article
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.
- Published in:
- Annals of Laboratory Medicine, 2017, v. 37, n. 4, p. 359, doi. 10.3343/alm.2017.37.4.359
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- Publication type:
- Article
Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.
- Published in:
- Annals of Rehabilitation Medicine, 2019, v. 43, n. 2, p. 234, doi. 10.5535/arm.2019.43.2.234
- By:
- Publication type:
- Article
Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
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
Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1283611
- 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
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- 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
A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly.
- Published in:
- Yonsei Medical Journal, 2012, v. 53, n. 3, p. 662, doi. 10.3349/ymj.2012.53.3.662
- By:
- Publication type:
- Article
Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays.
- Published in:
- Annals of Laboratory Medicine, 2024, v. 44, n. 3, p. 195, doi. 10.3343/alm.2023.0389
- By:
- Publication type:
- Article
Evaluation of the AdvanSure One-Stop COVID-19 Plus Kit for SARS-CoV-2 Detection Using a Streamlined RNA Extraction Method.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 5, p. 508, doi. 10.3343/alm.2023.43.5.508
- By:
- Publication type:
- Article
Performance Evaluation of the PowerChek SARSCoV-2, Influenza A & B Multiplex Real-Time PCR Kit in Comparison with the BioFire Respiratory Panels.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 4, p. 473, doi. 10.3343/alm.2022.42.4.473
- By:
- Publication type:
- Article
Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 352, doi. 10.3343/alm.2022.42.3.352
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- Publication type:
- Article
Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 2, p. 274, doi. 10.3343/alm.2022.42.2.274
- 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
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- 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
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- 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
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1131888
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- 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
Communication: Evaluation of the Humasis COVID-19 Antigen Rapid Diagnostic Test for the Diagnosis of SARS-CoV-2 Infection.
- Published in:
- Annals of Clinical & Laboratory Science, 2024, v. 54, n. 1, p. 126
- By:
- Publication type:
- Article
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2020, v. 50, n. 6, p. 818
- By:
- Publication type:
- Article
The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.
- Published in:
- Annals of Clinical & Laboratory Science, 2020, v. 50, n. 5, p. 691
- By:
- Publication type:
- Article
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 6, p. 776
- By:
- Publication type:
- Article
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 4, p. 522
- By:
- Publication type:
- Article
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.
- Published in:
- Annals of Clinical & Laboratory Science, 2017, v. 47, n. 6, p. 747
- By:
- Publication type:
- Article
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 1, p. 110
- 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
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
- Published in:
- Brain Communications, 2023, v. 5, n. 3, p. 1, doi. 10.1093/braincomms/fcad139
- 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
TRIP11-PDGFRB fusion in a patient with a therapyrelated myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 1, p. 63, doi. 10.6065/apem.2020.25.1.63
- By:
- Publication type:
- Article
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 1, p. 46, doi. 10.6065/apem.2020.25.1.46
- By:
- Publication type:
- Article
First identified Korean family with Tatton-Brown- Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 4, p. 253, doi. 10.6065/apem.2019.24.4.253
- By:
- Publication type:
- Article
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 3, p. 199, doi. 10.6065/apem.2019.24.3.199
- By:
- Publication type:
- Article
A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 6, p. 137, doi. 10.6065/apem.2019.24.2.137
- 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