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Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
- Published in:
- Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3
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- Publication type:
- Article
Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
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- 2012
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- Publication type:
- Journal Article
Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3.
- Published in:
- Audiology & Neurotology, 2009, v. 14, n. 5, p. 303, doi. 10.1159/000212109
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- Article
Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W.
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- Audiology & Neurotology, 2007, v. 12, n. 2, p. 77, doi. 10.1159/000097794
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- Article
Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.
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- 2006
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- Publication type:
- journal article
Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446
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- Publication type:
- Article
Phenotype of the first otosclerosis family linked to OTSC10.
- Published in:
- Laryngoscope, 2011, v. 121, n. 4, p. 838, doi. 10.1002/lary.21463
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- Publication type:
- Article
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
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- Laryngoscope, 2010, v. 120, n. 12, p. 2489, doi. 10.1002/lary.21159
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- Publication type:
- Article
A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
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- Laryngoscope, 2009, v. 119, n. 11, p. 2211, doi. 10.1002/lary.20664
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- Publication type:
- Article
Hearing Loss in the Nonocular Stickler Syndrome Caused by a COL11A2 Mutation.
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- Laryngoscope, 2000, v. 110, n. 3, p. 457, doi. 10.1097/00005537-200003000-00025
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- Publication type:
- Article
HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice.
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- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005137
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- Publication type:
- Article
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
- Published in:
- 2011
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- Publication type:
- journal article
Audioprofile Surfaces.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2016, v. 125, n. 5, p. 361, doi. 10.1177/0003489415614863
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- Publication type:
- Article
Phenotype Analysis of an Australian DFNA9 Family With the I109N COCH Mutation.
- Published in:
- 2011
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- Publication type:
- Journal Article
Phenotype Analysis of an Australian DFNA9 Family With the I109N COCH Mutation.
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- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 6, p. 414, doi. 10.1177/000348941112000612
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- Publication type:
- Article
Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family.
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- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 4, p. 243, doi. 10.1177/000348941112000405
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- Publication type:
- Article
Phenotypes of Two Dutch DFNA3 Families With Mutations in GJB2.
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- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 3, p. 191, doi. 10.1177/000348941112000308
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- Publication type:
- Article
Mutations in TMC1 Are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2010, v. 119, n. 12, p. 830, doi. 10.1177/000348941011901207
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- Publication type:
- Article
Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family With a Novel Mutation in ACTG1.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2009, v. 118, n. 5, p. 382, doi. 10.1177/000348940911800511
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- Publication type:
- Article
Mild and Variable Audiometric and Vestibular Features in a Third DFNA15 Family With a Novel Mutation in POU4F3.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2009, v. 118, n. 4, p. 313, doi. 10.1177/000348940911800413
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- Publication type:
- Article
Nijmegen Results With Application of a Bone-Anchored Hearing Aid in Children: Simplified Surgical Technique.
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- Annals of Otology, Rhinology & Laryngology, 2008, v. 117, n. 11, p. 805, doi. 10.1177/000348940811701103
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- Publication type:
- Article
Hearing Impairment in Genotyped Wolfram Syndrome Patients.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2008, v. 117, n. 7, p. 494, doi. 10.1177/000348940811700704
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- Publication type:
- Article
Phenotype Description of a Novel DFNA9/COCH Mutation, 1109T.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2007, v. 116, n. 5, p. 349, doi. 10.1177/000348940711600506
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- Publication type:
- Article
Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 2, p. 220, doi. 10.3390/biom12020220
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- Publication type:
- Article
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature.
- Published in:
- 2001
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- Publication type:
- journal article
Audio Gene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 539, doi. 10.1002/humu.22268
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- Publication type:
- Article
Central nervous system Whipple's disease.
- Published in:
- 1997
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- Publication type:
- commentary
High prevalence of symptoms of Meniere's disease in three families with a mutation on the COCH gene.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1425, doi. 10.1093/hmg/8.8.1425
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- Publication type:
- Article
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 2, p. 361, doi. 10.1093/hmg/8.2.361
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- Publication type:
- Article
Isolated congenital stapes ankylosis: Surgical results in 32 ears and a review of the literature.
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- Laryngoscope, 1990, v. 100, n. 12, p. 1331, doi. 10.1288/00005537-199012000-00017
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- Publication type:
- Article