Found: 33
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Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2510, doi. 10.3390/ijms22052510
- By:
- Publication type:
- Article
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 889, doi. 10.1007/s00439-021-02368-y
- By:
- Publication type:
- Article
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 915, doi. 10.1007/s00439-021-02367-z
- By:
- Publication type:
- Article
Insufficient Discriminatory Power of Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry Dendrograms to Determine the Clonality of Multi-Drug-Resistant Acinetobacter baumannii Isolates from an Intensive Care Unit.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/535027
- By:
- Publication type:
- Article
The First Korean Hemoglobinopathy With Unique Hemoglobin Electrophoresis Results Diagnosed as Hemoglobin Boras.
- Published in:
- Annals of Laboratory Medicine, 2024, v. 44, n. 1, p. 97, doi. 10.3343/alm.2024.44.1.97
- By:
- Publication type:
- Article
Associations of LDL Cholesterol, Non-HDL Cholesterol, and Apolipoprotein B With Cardiovascular Disease Occurrence in Adults: Korean Genome and Epidemiology Study.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 3, p. 237, doi. 10.3343/alm.2023.43.3.237
- By:
- Publication type:
- Article
Performance Evaluation of the DxC 700 AU Chemistry Analyzer in Hemoglobin A1c Measurement.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 2, p. 167, doi. 10.3343/alm.2023.43.2.167
- By:
- Publication type:
- Article
Correspondence: Response to "Eliminating or Minimizing the Effects of Cold Agglutinins on the Accuracy of Complete Blood Count Results".
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Effects of Cold Agglutinin on the Accuracy of Complete Blood Count Results and Optimal Sample Pretreatment Protocols for Eliminating Such Effects.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 4, p. 371, doi. 10.3343/alm.2018.38.4.371
- By:
- Publication type:
- Article
Recent Increase in the Incidence of TEM-135 β-Lactamase-harboring Neisseria gonorrhoeae in Korea.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 4, p. 324, doi. 10.3343/alm.2018.38.4.324
- By:
- Publication type:
- Article
Transfusion demand in COVID‐19 patients from the Korean population: a nationwide study in South Korea.
- Published in:
- British Journal of Haematology, 2020, v. 190, n. 6, p. e323, doi. 10.1111/bjh.17030
- By:
- Publication type:
- Article
Germline BRCA, chemotherapy response scores, and survival in the neoadjuvant treatment of ovarian cancer.
- Published in:
- 2020
- By:
- Publication type:
- journal article
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007316
- By:
- Publication type:
- Article
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 3, p. 449, doi. 10.3390/biom10030449
- By:
- Publication type:
- Article
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.
- Published in:
- BioMed Research International, 2018, p. 1, doi. 10.1155/2018/1250721
- By:
- Publication type:
- Article
Microbiome analysis reveals that Ralstonia is responsible for decreased renal function in patients with ulcerative colitis.
- Published in:
- Clinical & Translational Medicine, 2021, v. 11, n. 3, p. 1, doi. 10.1002/ctm2.322
- By:
- Publication type:
- Article
The risk factors associated with treatment-related mortality in 16,073 kidney transplantation—A nationwide cohort study.
- Published in:
- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0236274
- By:
- Publication type:
- Article
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
- Published in:
- BMC Medical Genomics, 2018, v. 11, p. 1, doi. 10.1186/s12920-018-0320-7
- By:
- Publication type:
- Article
Incidence of malignancy and related mortality after kidney transplantation: a nationwide, population-based cohort study in Korea.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78283-5
- By:
- Publication type:
- Article
A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Clinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay.
- Published in:
- Yonsei Medical Journal, 2015, v. 56, n. 6, p. 1742, doi. 10.3349/ymj.2015.56.6.1742
- By:
- Publication type:
- Article
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.
- Published in:
- Experimental & Molecular Medicine EMM, 2019, v. 51, n. 8, p. N.PAG, doi. 10.1038/s12276-019-0300-9
- By:
- Publication type:
- Article
Association of vancomycin trough concentration on the treatment outcome of patients with bacteremia caused by Enterococcus species.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. 335, doi. 10.1002/humu.23698
- By:
- Publication type:
- Article
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-41068-6
- By:
- Publication type:
- Article
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34876-9
- By:
- Publication type:
- Article
The role of Jagged1 as a dynamic switch of cancer cell plasticity in PDAC assembloids.
- Published in:
- Theranostics, 2022, v. 12, n. 9, p. 4431, doi. 10.7150/thno.71364
- By:
- Publication type:
- Article
In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model.
- Published in:
- Theranostics, 2022, v. 12, n. 5, p. 2465, doi. 10.7150/thno.67781
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- Publication type:
- Article
Development of a Controlled Vocabulary-Based Adverse Drug Reaction Signal Dictionary for Multicenter Electronic Health Record-Based Pharmacovigilance.
- Published in:
- 2019
- By:
- Publication type:
- journal article
SGLT2 inhibition modulates NLRP3 inflammasome activity via ketones and insulin in diabetes with cardiovascular disease.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15983-6
- By:
- Publication type:
- Article
Clinical implication by differential analytical performances of serum free light chain quantitation analysis using fully automated analyzers.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2023, v. 61, n. 7, p. 1288, doi. 10.1515/cclm-2023-0050
- By:
- Publication type:
- Article