Found: 480
Select item for more details and to access through your institution.
Speech Training for Young Adults Who Are Congenitally Deaf: A Case Study.
- Published in:
- Volta Review, 1998, v. 100, n. 1, p. 5
- By:
- Publication type:
- Article
Genetic counseling for hearing loss.
- Published in:
- Volta Review, 1997, v. 99, n. 5, p. 85
- By:
- Publication type:
- Article
Hereditary hearing loss.
- Published in:
- Volta Review, 1997, v. 99, n. 5, p. 63
- By:
- Publication type:
- Article
Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients.
- Published in:
- Medical Principles & Practice, 2013, v. 23, n. 1, p. 74, doi. 10.1159/000348304
- By:
- Publication type:
- Article
Gene therapy: Reversing deafness.
- Published in:
- Nature Reviews Drug Discovery, 2015, v. 14, n. 9, p. 602, doi. 10.1038/nrd4723
- By:
- Publication type:
- Article
Elongated EABR wave latencies observed in patients with auditory neuropathy caused by OTOF mutation.
- Published in:
- Laryngoscope Investigative Otolaryngology, 2018, v. 3, n. 5, p. 388, doi. 10.1002/lio2.210
- By:
- Publication type:
- Article
The Role of Genetic Factors for Hearing Deterioration Across 20 Years: A Twin Study.
- Published in:
- Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2015, v. 70, n. 5, p. 647, doi. 10.1093/gerona/glu245
- By:
- Publication type:
- Article
Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
- Published in:
- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/4707315
- By:
- Publication type:
- Article
Advances in Molecular Genetics and the Molecular Biology of Deafness.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/5629093
- By:
- Publication type:
- Article
Potential treatments for genetic hearing loss in humans: current conundrums.
- Published in:
- Gene Therapy, 2015, v. 22, n. 8, p. 603, doi. 10.1038/gt.2015.27
- By:
- Publication type:
- Article
Gene transfer in inner ear cells: a challenging race.
- Published in:
- Gene Therapy, 2013, v. 20, n. 3, p. 237, doi. 10.1038/gt.2012.51
- By:
- Publication type:
- Article
A modified adenovirus can transfect cochlear hair cells in vivo without compromising cochlear function.
- Published in:
- Gene Therapy, 2001, v. 8, n. 10, p. 789, doi. 10.1038/sj.gt.3301445
- By:
- Publication type:
- Article
Hereditary deafness: lessons for developmental studies and genetic diagnosis.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S232, doi. 10.1007/PL00014409
- By:
- Publication type:
- Article
Endocrine Glands and Hearing: Auditory Manifestations of Various Endocrine and Metabolic Conditions.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2017, v. 21, n. 3, p. 464, doi. 10.4103/ijem.IJEM_10_17
- By:
- Publication type:
- Article
Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.
- Published in:
- Application of Clinical Genetics, 2016, v. 9, p. 141, doi. 10.2147/TACG.S113828
- By:
- Publication type:
- Article
Confronting Genetic Research and Genetic Counseling in Historical Deaf Research.
- Published in:
- American Annals of the Deaf, 2022, v. 167, n. 4, p. 1, doi. 10.1353/aad.2022.0048
- By:
- Publication type:
- Article
Experience of Hearing Loss, Communication, Social Participation, and Psychological Well-Being Among Adolescents With Cochlear Implants.
- Published in:
- American Annals of the Deaf, 2018, v. 163, n. 4, p. 424, doi. 10.1353/aad.2018.0027
- By:
- Publication type:
- Article
SOCIAL-EMOTIONAL DEVELOPMENT IN CHILDREN AND YOUTH WHO ARE DEAFBLIND.
- Published in:
- American Annals of the Deaf, 2016, v. 161, n. 4, p. 444, doi. 10.1353/aad.2016.0036
- By:
- Publication type:
- Article
EARLY IDENTIFICATION OF INFANTS AND TODDLERS WITH DEAFBLINDNESS.
- Published in:
- American Annals of the Deaf, 2016, v. 161, n. 4, p. 412, doi. 10.1353/aad.2016.0034
- By:
- Publication type:
- Article
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 288, doi. 10.1111/cge.12799
- By:
- Publication type:
- Article
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 5, p. 456, doi. 10.1111/cge.12521
- By:
- Publication type:
- Article
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 5, p. 462, doi. 10.1111/cge.12522
- By:
- Publication type:
- Article
SOX10 mutations mimic isolated hearing loss.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 4, p. 352, doi. 10.1111/cge.12506
- By:
- Publication type:
- Article
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 1, p. 85, doi. 10.1111/cge.12438
- By:
- Publication type:
- Article
SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 5, p. 467, doi. 10.1111/cge.12452
- By:
- Publication type:
- Article
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 5, p. 477, doi. 10.1111/cge.12006
- By:
- Publication type:
- Article
Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 4, p. 317, doi. 10.1111/cge.12100
- By:
- Publication type:
- Article
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 498, doi. 10.1111/j.1399-0004.2011.01729.x
- By:
- Publication type:
- Article
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 289, doi. 10.1111/j.1399-0004.2011.01654.x
- By:
- Publication type:
- Article
DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 240, doi. 10.1111/j.1399-0004.2011.01752.x
- By:
- Publication type:
- Article
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA Song et al.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 6, p. 524, doi. 10.1111/j.1399-0004.2010.01426.x
- By:
- Publication type:
- Article
A large cohort study of GJB2 mutations in Japanese hearing loss patients.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 5, p. 464, doi. 10.1111/j.1399-0004.2010.01407.x
- By:
- Publication type:
- Article
Two missense mutations in SLC26A4 gene: a molecular and functional study.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 74, doi. 10.1111/j.1399-0004.2009.01360.x
- By:
- Publication type:
- Article
Phenotype and genotype in females with POU3F4 mutations.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 6, p. 558, doi. 10.1111/j.1399-0004.2009.01215.x
- By:
- Publication type:
- Article
Identities and frequencies of mutations of the otoferlin gene ( OTOF) causing DFNB9 deafness in Pakistan.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 3, p. 237, doi. 10.1111/j.1399-0004.2008.01128.x
- By:
- Publication type:
- Article
LRTOMT: a new tone in understanding the symphony of non-syndromic deafness.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 3, p. 227, doi. 10.1111/j.1399-0004.2009.01150_3.x
- By:
- Publication type:
- Article
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 6, p. 554, doi. 10.1111/j.1399-0004.2008.01004.x
- By:
- Publication type:
- Article
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype–phenotype correlation for amino acid-572 of TMC1.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 2, p. 148, doi. 10.1111/j.1399-0004.2007.00739.x
- By:
- Publication type:
- Article
The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 429, doi. 10.1111/j.1399-0004.2006.00611.x
- By:
- Publication type:
- Article
Short Report Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 5, p. 384, doi. 10.1111/j.0009-9163.2004.00235.x
- By:
- Publication type:
- Article
Mutation analysis of Connexin 31 (GJB3 ) in sporadic non-syndromic hearing impairment.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 154, doi. 10.1034/j.1399-0004.2003.00031.x
- By:
- Publication type:
- Article
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 4, p. 306, doi. 10.1034/j.1399-0004.2002.620409.x
- By:
- Publication type:
- Article
Non-syndromic autosomal-dominant deafness.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 1, p. 1, doi. 10.1034/j.1399-0004.2002.620101.x
- By:
- Publication type:
- Article
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 269, doi. 10.1034/j.1399-0004.2001.590409.x
- By:
- Publication type:
- Article
HotSpots.
- Published in:
- 2001
- By:
- Publication type:
- Abstract
Determination of the frequency of the 35delG allele in Brazilian neonates.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 339, doi. 10.1034/j.1399-0004.2000.580415.x
- By:
- Publication type:
- Article
Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 6, p. 439, doi. 10.1034/j.1399-0004.2000.570607.x
- By:
- Publication type:
- Article
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 3, p. 232, doi. 10.1034/j.1399-0004.2000.570311.x
- By:
- Publication type:
- Article