Works matching DE "GENETICS of deafness"
Results: 539
Development of Pre-Word-Learning Skills in Infants with Cochlear Implants.
- Published in:
- Volta Review, 2003, v. 103, n. 4, p. 303
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- Publication type:
- Article
Speech Training for Young Adults Who Are Congenitally Deaf: A Case Study.
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- Volta Review, 1998, v. 100, n. 1, p. 5
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- Article
Genetic counseling for hearing loss.
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- Volta Review, 1997, v. 99, n. 5, p. 85
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- Article
Hereditary hearing loss.
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- Volta Review, 1997, v. 99, n. 5, p. 63
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- Article
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
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- Genetica, 2014, v. 142, n. 6, p. 555, doi. 10.1007/s10709-014-9803-4
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- Article
Hearing Loss in Infants with Microcephaly and Evidence of Congenital Zika Virus Infection - Brazil, November 2015-May 2016.
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- 2016
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- Publication type:
- journal article
<italic>ELMOD3</italic>, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
- Published in:
- Human Genetics, 2018, v. 137, n. 4, p. 329, doi. 10.1007/s00439-018-1885-0
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- Publication type:
- Article
Performance Over Time of Congenitally Deaf and Postlingually Deafened Children Using a Multichannel Cochlear Implant.
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- Journal of Speech & Hearing Research, 1992, v. 35, n. 4, p. 913, doi. 10.1044/jshr.3504.913
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- Article
Glutathione peroxidase and catalase enzyme gene polymorphisms in profound congenital hearing loss.
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- ENT Updates, 2017, v. 7, n. 3, p. 126, doi. 10.2399/jmu.2017003003
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- Article
Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.
- Published in:
- 2013
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- Publication type:
- Letter
Inherited deafness among nervous pointer dogs.
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- Journal of Heredity, 1994, v. 85, n. 1, p. 56
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- Publication type:
- Article
Ageing brains attend a symphony with asynchronous transmitter release.
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- Journal of Physiology, 2017, v. 595, n. 3, p. 613, doi. 10.1113/JP273421
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- Article
The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI.
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- Journal of Physiology, 2016, v. 594, n. 13, p. 3667, doi. 10.1113/JP272220
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- Article
A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/5574136
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- Publication type:
- Article
tRNA‐derived fragments are altered in diabetes.
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- Diabetic Medicine, 2024, v. 41, n. 2, p. 1, doi. 10.1111/dme.15258
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- Publication type:
- Article
Fine structure DPOAEs in normal hearing consanguineous parents of congenitally hearing impaired siblings (probable carriers).
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- Indian Journal of Otology, 2013, v. 19, n. 3, p. 104, doi. 10.4103/0971-7749.117469
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- Publication type:
- Article
The Genetic Basis of Hearing Loss: Recent Advances and Future Prospects.
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- International Journal of Head & Neck Surgery, 2016, v. 7, n. 2, p. 64, doi. 10.5005/jp-journals-10001-1267
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- Publication type:
- Article
Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.
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- Application of Clinical Genetics, 2016, v. 9, p. 141, doi. 10.2147/TACG.S113828
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- Publication type:
- Article
Hearing Loss in Persons Exposed and not Exposed to Occupational Noise.
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- Journal of International Advanced Otology, 2016, v. 12, n. 1, p. 49, doi. 10.5152/iao.2016.1770
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- Publication type:
- Article
CONSANGUINEOUS MARRIAGES AS A CAUSE OF CONGENITAL DEAFNESS (CASE OF UZBEKISTAN).
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- Journal of International Advanced Otology, 2015, v. 11, p. 74
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- Publication type:
- Article
CROSSMODAL PLASTICITY IN DEAF AUDITORY CORTEX MEDIATES ENHANCED FACE PERCEPTION IN THE CONGENITALLY DEAF.
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- Journal of International Advanced Otology, 2015, v. 11, p. 3
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- Publication type:
- Article
Connexin 26 (GJB2) and connexin 30 del(GJB6-D13S1830) mutations in Slovenians with prelingual non-syndromic deafness.
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- Journal of International Advanced Otology, 2011, v. 7, n. 3, p. 372
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- Publication type:
- Article
GJB2 35delG and Mitochondrial A1555G Mutations and Etiology of Deafness at the Gelibolu School for the Deaf in Turkey.
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- Journal of International Advanced Otology, 2011, v. 7, n. 3, p. 361
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- Article
Comparison of Hearing Screening Protocols for Universal Newborn Hearing Screening In Turkey.
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- Journal of International Advanced Otology, 2011, v. 7, n. 1, p. 223
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- Article
Hearing Screening Protocols of Babies with Hearing Loss Risk Factors in Turkey.
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- Journal of International Advanced Otology, 2011, v. 7, n. 1, p. 216
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- Article
Comparison of Hearing Screening Protocols for Universal Newborn Hearing Screening In Turkey.
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- Journal of International Advanced Otology, 2010, v. 6, n. 2, p. 233
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- Publication type:
- Article
Hearing Screening Protocols of Babies with Hearing Loss Risk Factors in Turkey.
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- Journal of International Advanced Otology, 2010, v. 6, n. 2, p. 216
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- Publication type:
- Article
Primary Cholesteatoma within the Stenotic Ear Canal: Report of two Cases, one with Extra-Temporal Complications.
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- Journal of International Advanced Otology, 2009, v. 5, n. 2, p. 281
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- Publication type:
- Article
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.
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- Acta Neurologica Scandinavica, 2001, v. 103, n. 3, p. 159, doi. 10.1034/j.1600-0404.2001.103003159.x
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- Publication type:
- Article
Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice.
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- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00401
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- Article
Documents: Alexander Graham Bell Visits the Mission.
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- Dukes County Intelligencer, 2017, v. 58, n. 2, p. 22
- Publication type:
- Article
Noise-Induced Dysregulation of Quaking RNA Binding Proteins Contributes to Auditory Nerve Demyelination and Hearing Loss.
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- Journal of Neuroscience, 2018, v. 38, n. 10, p. 2551, doi. 10.1523/JNEUROSCI.2487-17.2018
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- Publication type:
- Article
A Short Splice Form of Xin-Actin Binding Repeat Containing 2 (XIRP2) Lacking the Xin Repeats Is Required for Maintenance of Stereocilia Morphology and Hearing Function.
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- Journal of Neuroscience, 2015, v. 35, n. 5, p. 1999, doi. 10.1523/JNEUROSCI.3449-14.2015
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- Publication type:
- Article
Long QT Syndrome in Children with Congenital Deafness.
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- Indian Pediatrics, 2009, v. 46, n. 6, p. 507
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- Publication type:
- Article
Screening of noise-induced hearing loss (NIHL)-associated SNPs and the assessment of its genetic susceptibility.
- Published in:
- 2019
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- Publication type:
- journal article
GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.
- Published in:
- Cell Biochemistry & Biophysics, 2015, v. 73, n. 1, p. 41, doi. 10.1007/s12013-015-0562-3
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- Publication type:
- Article
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
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- Molecular Medicine, 2016, v. 22, p. 41, doi. 10.2119/molmed.2015.00226
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- Publication type:
- Article
Vestibular Functions of Hereditary Hearing Loss Patients with GJB2 Mutations.
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- Audiology & Neurotology, 2015, v. 20, n. 3, p. 147, doi. 10.1159/000368292
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- Publication type:
- Article
Molecular Analysis of Hair Cells in Sensorineural Hearing Loss.
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- Audiology & Neurotology, 2014, v. 19, n. 4, p. 267, doi. 10.1159/000363683
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- Publication type:
- Article
Identification of Novel Variants in the Cx29 Gene of Nonsyndromic Hearing Loss Patients Using Buccal Cells and Restriction Fragment Length Polymorphism Method.
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- Audiology & Neurotology, 2010, v. 15, n. 2, p. 81, doi. 10.1159/000231633
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- Publication type:
- Article
Expression of Cochlin mRNA Splice Variants in the Inner Ear.
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- Audiology & Neurotology, 2010, v. 15, n. 2, p. 88, doi. 10.1159/000231634
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- Publication type:
- Article
Is There an Overlap between Sudden Neurosensorial Hearing Loss and Cardiovascular Risk Factors?
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- Audiology & Neurotology, 2009, v. 14, n. 3, p. 139, doi. 10.1159/000171475
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- Publication type:
- Article
Cochlear Implant in Children with Asymptomatic Congenital Cytomegalovirus Infection.
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- Audiology & Neurotology, 2009, v. 14, n. 3, p. 146, doi. 10.1159/000171476
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- Publication type:
- Article
Prospective Mutation Screening of Three Common Deafness Genes in a Large Taiwanese Cohort with Idiopathic Bilateral Sensorineural Hearing Impairment Reveals a Difference in the Results between Families from Hospitals and Those from Rehabilitation Facilities
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- Audiology & Neurotology, 2008, v. 13, n. 3, p. 172, doi. 10.1159/000112425
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- Publication type:
- Article
Fertilization: Welcome to the fold.
- Published in:
- Nature, 2008, v. 456, n. 7222, p. 586, doi. 10.1038/456586a
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- Publication type:
- Article
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.
- Published in:
- 2008
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- Publication type:
- Letter
Acoustics: Chuckle vision.
- Published in:
- Nature, 2008, v. 454, n. 7203, p. 370, doi. 10.1038/454370c
- Publication type:
- Article
Nowy typ implantu CochlearTM Osia® OSI200 w Hiszpanii – opis przypadku.
- Published in:
- 2021
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- Publication type:
- Case Study
Disease-targeted sequencing: a cornerstone in the clinic.
- Published in:
- Nature Reviews Genetics, 2013, v. 14, n. 4, p. 295, doi. 10.1038/nrg3463
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- Publication type:
- Article
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
- Published in:
- Human Genetics, 2016, v. 135, n. 5, p. 513, doi. 10.1007/s00439-016-1657-7
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- Publication type:
- Article