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A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.
- Published in:
- Human Genetics, 2008, v. 123, n. 1, p. 41, doi. 10.1007/s00439-007-0447-7
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- Publication type:
- Article
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 24, doi. 10.1007/s00439-002-0836-x
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- Article
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
- Published in:
- 2019
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- Publication type:
- journal article
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3075
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- Publication type:
- Article
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 189, doi. 10.1038/ejhg.2014.83
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- Article
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
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- Audiology Research, 2023, v. 13, n. 3, p. 341, doi. 10.3390/audiolres13030029
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- Publication type:
- Article
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.
- Published in:
- Audiology Research, 2021, v. 11, n. 4, p. 639, doi. 10.3390/audiolres11040059
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- Publication type:
- Article
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 951, doi. 10.3390/genes15070951
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- Publication type:
- Article
Genetics of Hearing Impairment.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 852, doi. 10.3390/genes13050852
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- Publication type:
- Article
Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 149, doi. 10.3390/genes13010149
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- Publication type:
- Article
A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.
- Published in:
- Genes, 2021, v. 12, n. 3, p. 411, doi. 10.3390/genes12030411
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- Publication type:
- Article
Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 151, doi. 10.3390/genes12020151
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- Publication type:
- Article
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.
- Published in:
- Nature Genetics, 2009, v. 41, n. 5, p. 609, doi. 10.1038/ng.355
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- Publication type:
- Article
Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.
- Published in:
- 2009
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- Publication type:
- journal article
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63256-5
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- Publication type:
- Article
A Novel Splice-Site Mutation in the <i>GJB2</i> Gene Causing Mild Postlingual Hearing Impairment.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073566
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- Publication type:
- Article
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 345, doi. 10.1038/ng726
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- Publication type:
- Article
Hipertiroidismo autoinmune en un paciente prematuro. Informe de caso.
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- Acta Pediatrica de Mexico, 2022, v. 43, n. 1, p. 28
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- Publication type:
- Article
Genetic etiology of non-syndromic hearing loss in Europe.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 683, doi. 10.1007/s00439-021-02425-6
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- Publication type:
- Article
Thalamic Foxp2 regulates output connectivity and sensory-motor impairments in a model of Huntington’s Disease.
- Published in:
- Cellular & Molecular Life Sciences, 2023, v. 80, n. 12, p. 1, doi. 10.1007/s00018-023-05015-z
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- Publication type:
- Article
Severe Juvenile-Onset Systemic Lupus Erythematosus: A Case Series-Based Review and Update.
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- Children, 2023, v. 10, n. 5, p. 852, doi. 10.3390/children10050852
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- Publication type:
- Article
Meridianins Rescue Cognitive Deficits, Spine Density and Neuroinflammation in the 5xFAD Model of Alzheimer's Disease.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.791666
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- Publication type:
- Article
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 924, doi. 10.1002/ajmg.a.33740
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- Article
GJB2: The spectrum of deafness-causing allele variants and their phenotype.
- Published in:
- Human Mutation, 2004, v. 24, n. 4, p. 305, doi. 10.1002/humu.20084
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- Publication type:
- Article
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)(Communicated by Xavier Estivill).
- Published in:
- Human Mutation, 2003, v. 22, n. 6, p. 451
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- Publication type:
- Article
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
- Published in:
- Biomedicines, 2023, v. 11, n. 11, p. 2943, doi. 10.3390/biomedicines11112943
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- Publication type:
- Article
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
- Published in:
- Human Mutation, 2011, v. 32, n. 7, p. 825, doi. 10.1002/humu.21512
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- Publication type:
- Article
The Escherichia coli K-12 sheA gene encodes a 34-kDa secreted haemolysin.
- Published in:
- Molecular Microbiology, 1997, v. 25, n. 1, p. 107, doi. 10.1046/j.1365-2958.1997.4391813.x
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- Publication type:
- Article
A Novel Locus for Non-syndromic Sensorineural Deafness (DFN6) Maps to Chromosome Xp22.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 9, p. 1383, doi. 10.1093/hmg/5.9.1383
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- Article
Genetics of Deafness.
- Published in:
- Genetics Research International, 2012, p. 1, doi. 10.1155/2012/562848
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- Article
PANORAMA ENERGÉTICO MUNDIAL 2020.
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- Economía Industrial, 2021, n. 419, p. 141
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- Publication type:
- Article
PERSPECTIVA ENERGÉTICA GLOBAL 2018.
- Published in:
- Economía Industrial, 2019, n. 411, p. 169
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- Publication type:
- Article
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10289-z
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- Publication type:
- Article