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1. Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases

2. Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them

3. Performance evaluation of the SMG HHV-6 Q Real-Time PCR Kit for quantitative detection and differentiation of human herpesvirus 6A and 6B

4. Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean

5. Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay

6. Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important

7. Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition

8. Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome

9. Clinical and genetic analyses of patients with lateralized overgrowth

10. Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies

11. Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia

12. Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency

13. Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

14. 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

16. Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets

17. Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue

18. Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

19. 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.

20. Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

21. Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays.

22. First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln)

23. Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in gene

24. A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in gene

25. Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report

26. Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib

29. Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience

30. Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

31. Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay

32. The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing

33. Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases

34. Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines.

35. An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing

36. Performance Evaluation of the PowerChek SARS-CoV-2, Influenza A & B Multiplex Real-Time PCR Kit in Comparison with the BioFire Respiratory Panel

37. Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report

38. Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients

39. Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5

40. Two novel mutations in TTN of a patient with congenital myopathy: A case report

41. 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

42. Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations

43. Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease

44. Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1

46. Whole-genome sequencing in clinically diagnosed Charcot–Marie–Tooth disease undiagnosed by whole-exome sequencing

48. 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

49. Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability

50. Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

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