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Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
- Published in:
- Human Genetics, 2011, v. 130, n. 6, p. 759, doi. 10.1007/s00439-011-1018-5
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- Article
A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait.
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- Human Genetics, 2007, v. 122, n. 1, p. 103, doi. 10.1007/s00439-007-0384-5
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- Article
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0853-4
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- Article
Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann-Pick Disease, Type C.
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- JARO - Journal of the Association for Research in Otolaryngology, 2014, v. 15, n. 4, p. 529, doi. 10.1007/s10162-014-0459-7
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- Article
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
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- Human Genetics, 2023, v. 142, n. 10, p. 1499, doi. 10.1007/s00439-023-02581-x
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- Article
Genetic hearing loss: the audiologist's perspective.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 311, doi. 10.1007/s00439-021-02360-6
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- Publication type:
- Article
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
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- Human Genetics, 2021, v. 140, n. 12, p. 1709, doi. 10.1007/s00439-021-02379-9
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- Article
Hearing Loss and Irritability Reporting Without Vestibular Differences in Explosive Breaching Professionals.
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.588377
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- Article
Genetic Hearing Loss Associated With Autoinflammation.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00141
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- Article
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
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- 2021
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- Publication type:
- journal article
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study.
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- Human Mutation, 2022, v. 43, n. 5, p. 613, doi. 10.1002/humu.24365
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- Article
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome.
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- Human Mutation, 2019, v. 40, n. 2, p. 162, doi. 10.1002/humu.23689
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- Article
Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder.
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- Otolaryngology-Head & Neck Surgery, 2022, v. 166, n. 2, p. 357, doi. 10.1177/01945998211008899
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- Publication type:
- Article
Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess.
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- 2013
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- Publication type:
- journal article
INCORPORATING Ototoxicity Management INTO CLINICAL PATHWAYS.
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- Audiology Today, 2022, v. 34, n. 2, p. 46
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- Article
Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia.
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- 2018
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- Publication type:
- journal article
Neuroimaging Findings in US Government Personnel and Their Family Members Involved in Anomalous Health Incidents.
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- JAMA: Journal of the American Medical Association, 2024, p. 1122, doi. 10.1001/jama.2024.2424
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- Publication type:
- Article
Clinical, Biomarker, and Research Tests Among US Government Personnel and Their Family Members Involved in Anomalous Health Incidents.
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- JAMA: Journal of the American Medical Association, 2024, p. 1109, doi. 10.1001/jama.2024.2413
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- Publication type:
- Article
Outcomes in Previously Healthy Cryptococcal Meningoencephalitis Patients Treated With Pulse Taper Corticosteroids for Post-infectious Inflammatory Syndrome.
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- Clinical Infectious Diseases, 2021, v. 73, n. 9, p. e2789, doi. 10.1093/cid/ciaa1901
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- Article
Audiovestibular Findings in a Cohort of Patients with Chiari Malformation Type I and Dizziness.
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- Journal of Clinical Medicine, 2023, v. 12, n. 8, p. 2767, doi. 10.3390/jcm12082767
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- Publication type:
- Article
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.
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- eLife, 2021, p. 1, doi. 10.7554/eLife.67361
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- Article
Mechanisms of Hearing Loss in Neurofibromatosis Type 2.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046132
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- Article
Discrimination Task Reveals Differences in Neural Bases of Tinnitus and Hearing Impairment.
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- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026639
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- Article
Tune Deafness: Processing Melodic Errors Outside of Conscious Awareness as Reflected by Components of the Auditory ERP.
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- PLoS ONE, 2008, v. 3, n. 6, p. 1, doi. 10.1371/journal.pone.0002349
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- Publication type:
- Article
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).
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- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02410-w
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- Publication type:
- Article
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).
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- 2022
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- Publication type:
- journal article
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
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- 2016
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- Publication type:
- journal article
Phase 1 trial and pharmacokinetic study of the oral platinum analog satraplatin in children and young adults with refractory solid tumors including brain tumors.
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- Pediatric Blood & Cancer, 2015, v. 62, n. 4, p. 603, doi. 10.1002/pbc.25344
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- Article
Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 194, doi. 10.1093/brain/aws317
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- Article
Audiometric and Otologic Findings in Children and Young Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas.
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- Laryngoscope, 2023, v. 133, n. 10, p. 2770, doi. 10.1002/lary.30522
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- Publication type:
- Article
Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency.
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- Human Mutation, 2013, v. 34, n. 9, p. 1250, doi. 10.1002/humu.22354
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- Article
Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?
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- Human Mutation, 2009, v. 30, n. 4, p. 599, doi. 10.1002/humu.20884
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- Article
SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct.
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- Cellular Physiology & Biochemistry (Karger AG), 2011, v. 28, n. 3, p. 545, doi. 10.1159/000335119
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- Article
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.
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- 2017
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- journal article
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
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- 2016
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- Publication type:
- journal article
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: Findings, results, and indications.
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- Laryngoscope, 2013, v. 123, n. 2, p. 477, doi. 10.1002/lary.23646
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- Publication type:
- Article
Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome.
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- Laryngoscope, 2011, v. 121, n. 10, p. 2250, doi. 10.1002/lary.22151
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- Article
Audiologic and Otologic Manifestations of Hutchinson-Gilford Progeria Syndrome.
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- Laryngoscope, 2010, v. 120, n. S3, p. S71, doi. 10.1002/lary.21260
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- Article
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.
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- Laryngoscope, 2010, v. 120, n. 2, p. 384, doi. 10.1002/lary.20722
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- Publication type:
- Article
Use of SLC26A4 Mutation Testing for Unilateral Enlargement of the Vestibular Aqueduct.
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- JAMA Otolaryngology-Head & Neck Surgery, 2013, v. 139, n. 9, p. 907, doi. 10.1001/jamaoto.2013.4185
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- Publication type:
- Article
Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3717, doi. 10.1002/ajmg.a.62437
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- Article
Auditory phenotype of Smith–Lemli–Opitz syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1131, doi. 10.1002/ajmg.a.62087
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- Article
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2210, doi. 10.1002/ajmg.a.38316
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- Article
Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct.
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- 2015
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- Publication type:
- journal article
Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2014, v. 151, p. P99, doi. 10.1177/0194599814541627a221
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- Publication type:
- Article
Audiovestibular Characteristics of Small Cochleovestibular Schwannomas in Neurofibromatosis Type 2.
- Published in:
- 2014
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- Publication type:
- journal article
Audiovestibular dysfunction associated with adoptive cell immunotherapy for melanoma.
- Published in:
- 2012
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- Publication type:
- journal article
Audiovestibular Dysfunction Associated with Adoptive Cell Immunotherapy for Melanoma.
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- Otolaryngology-Head & Neck Surgery, 2012, v. 147, n. 4, p. 744, doi. 10.1177/0194599812448356
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- Publication type:
- Article
Audiovestibular Dysfunction Associated with Adoptive Cell Therapy for Melanoma.
- Published in:
- 2011
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- Publication type:
- Abstract
Otologic Disease in Polyostotic Fibrous Dysplasia and McCune‐Albright Syndrome.
- Published in:
- 2011
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- Publication type:
- Abstract