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Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis.
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- Nephrology Dialysis Transplantation, 2001, v. 16, n. 5, p. 939, doi. 10.1093/ndt/16.5.939
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- Publication type:
- Article
Evaluating protective and therapeutic effects of alpha-lipoic acid on cisplatin-induced ototoxicity.
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- Cell Death & Disease, 2018, v. 9, n. 8, p. 1, doi. 10.1038/s41419-018-0888-z
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- Publication type:
- Article
Allelic Frequencies of Six (CA)n Microsatellite Markers of the Dystrophin Gene in the Korean Population.
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- Human Heredity, 1999, v. 49, n. 4, p. 205, doi. 10.1159/000022876
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- Publication type:
- Article
Variation in the Human TAS1R Taste Receptor Genes.
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- Chemical Senses, 2006, v. 31, n. 7, p. 599, doi. 10.1093/chemse/bjj065
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- Publication type:
- Article
Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1591, doi. 10.1093/hmg/ddt549
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- Publication type:
- Article
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 639, doi. 10.1038/ejhg.2014.154
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- Publication type:
- Article
Correction to: Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing.
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- Molecular Neurobiology, 2019, v. 56, n. 3, p. 2300, doi. 10.1007/s12035-019-1470-0
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- Publication type:
- Article
Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing.
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- Molecular Neurobiology, 2018, v. 55, n. 8, p. 6518, doi. 10.1007/s12035-017-0857-z
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- Publication type:
- Article
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
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- Laryngoscope, 2014, v. 124, n. 5, p. E194, doi. 10.1002/lary.24504
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- Publication type:
- Article
Spatiotemporal expression patterns of clusterin in the mouse inner ear.
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- Cell & Tissue Research, 2017, v. 370, n. 1, p. 89, doi. 10.1007/s00441-017-2650-8
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- Publication type:
- Article
A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma.
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- Familial Cancer, 2016, v. 15, n. 4, p. 601, doi. 10.1007/s10689-016-9874-8
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- Publication type:
- Article
An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-60374-y
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- Publication type:
- Article
Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss.
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- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095646
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- Publication type:
- Article
Mutational Analysis of <i>EYA1</i>, <i>SIX1</i> and <i>SIX5</i> Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067236
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- Publication type:
- Article
A Rapid Method for Simultaneous Screening of Multi-Gene Mutations Associated with Hearing Loss in the Korean Population.
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- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057237
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- Publication type:
- Article
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
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- Human Genetics, 2016, v. 135, n. 3, p. 287, doi. 10.1007/s00439-015-1625-7
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- Publication type:
- Article
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
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- 2012
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- Publication type:
- journal article
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 60, doi. 10.1186/1750-1172-7-60
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- Publication type:
- Article
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
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- Human Mutation, 2009, v. 30, n. 7, p. E716, doi. 10.1002/humu.21036
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- Publication type:
- Article
Methionine Sulfoxide Reductase A, B1 and B2 Are Likely to Be Involved in the Protection against Oxidative Stress in the Inner Ear.
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- Cells Tissues Organs, 2015, v. 199, n. 4, p. 294, doi. 10.1159/000368893
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- Publication type:
- Article
Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.
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- Molecular Biology Reports, 2014, v. 41, n. 7, p. 4321, doi. 10.1007/s11033-014-3303-6
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- Publication type:
- Article
Multiplex minisequencing screening for PTC genotype associated with bitter taste perception.
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- Molecular Biology Reports, 2014, v. 41, n. 3, p. 1563, doi. 10.1007/s11033-013-3002-8
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- Publication type:
- Article
Erratum to: Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population.
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- 2012
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- Publication type:
- Correction notice
Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population.
- Published in:
- Molecular Biology Reports, 2012, v. 39, n. 5, p. 5561, doi. 10.1007/s11033-011-1360-7
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- Publication type:
- Article
A Systematic Survey of Carbonic Anhydrase mRNA Expression During Mammalian Inner Ear Development.
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- Developmental Dynamics, 2013, v. 242, n. 3, p. 269, doi. 10.1002/dvdy.23917
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- Publication type:
- Article
Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss.
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- Human Mutation, 2019, v. 40, n. 8, p. 1172, doi. 10.1002/humu.23774
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- Publication type:
- Article
Identification of Pathogenic Mechanisms of COCH Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype-Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder.
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- Human Mutation, 2014, v. 35, n. 12, p. 1506, doi. 10.1002/humu.22701
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- Publication type:
- Article
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
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- Journal of Molecular Medicine, 2012, v. 90, n. 11, p. 1321, doi. 10.1007/s00109-012-0911-2
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- Publication type:
- Article
Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease (ADPKD): the first Asian report.
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- Clinical Genetics, 2001, v. 60, n. 2, p. 138, doi. 10.1034/j.1399-0004.2001.600208.x
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- Publication type:
- Article
Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
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- Clinical Genetics, 1999, v. 55, n. 5, p. 325, doi. 10.1034/j.1399-0004.1999.550505.x
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- Publication type:
- Article
Therapeutic effect of intraperitoneal dexamethasone on noise-induced permanent threshold shift in mice model.
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- Experimental Brain Research, 2024, v. 242, n. 1, p. 257, doi. 10.1007/s00221-023-06742-2
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- Publication type:
- Article
Fursultiamine Prevents Drug-Induced Ototoxicity by Reducing Accumulation of Reactive Oxygen Species in Mouse Cochlea.
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- Antioxidants, 2021, v. 10, n. 10, p. 1526, doi. 10.3390/antiox10101526
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- Publication type:
- Article
Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119443
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- Publication type:
- Article
C-phycocyanin from Limnothrix Species KNUA002 Alleviates Cisplatin-Induced Ototoxicity by Blocking the Mitochondrial Apoptotic Pathway in Auditory Cells.
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- Marine Drugs, 2019, v. 17, n. 4, p. 235, doi. 10.3390/md17040235
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- Publication type:
- Article