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
Works matching AU Ja-Hyun Jang
Results: 73
1
2
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
3
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
4
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
5
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
6
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
7
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
8
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
9
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
10
A new phenotype of MT-ND6 gene mutation for Leber's hereditary optic neuropathy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
11
Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-76509-4
- By:
- Publication type:
- Article
12
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
13
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
14
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
15
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
16
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
17
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
18
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
19
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
20
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
21
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
22
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
- Published in:
- Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-024-00709-2
- By:
- Publication type:
- Article
23
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
- Published in:
- Human Genomics, 2025, v. 1, p. 1, doi. 10.1186/s40246-024-00709-2
- By:
- Publication type:
- Article
24
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
25
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl.
- Published in:
- Ophthalmic Genetics, 2022, v. 43, n. 5, p. 724, doi. 10.1080/13816810.2022.2106495
- By:
- Publication type:
- Article
26
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
27
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
28
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
29
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
30
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
31
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
32
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
33
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
34
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
35
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
36
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
37
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
38
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
39
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
40
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
41
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
42
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
43
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
- By:
- Publication type:
- Article
44
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
45
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
46
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
47
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00449-1
- By:
- Publication type:
- Article
48
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
49
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
50
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