Found: 17
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Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 64, doi. 10.1038/jhg.2010.147
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- Article
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
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- Journal of Human Genetics, 2009, v. 54, n. 12, p. 732, doi. 10.1038/jhg.2009.107
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- Article
Audioprofiles and antioxidant enzyme genotypes in presbycusis.
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- Laryngoscope, 2012, v. 122, n. 11, p. 2539, doi. 10.1002/lary.23577
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- Article
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
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- Laryngoscope, 2011, v. 121, n. 4, p. 811, doi. 10.1002/lary.21422
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- Article
Mitochondrial DNA Mutation Screening in South Florida.
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- Laryngoscope, 2010, v. 120, n. S3, p. S92, doi. 10.1002/lary.21299
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- Article
Analysis of mi R-376 RNA cluster members in the mouse inner ear.
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- International Journal of Experimental Pathology, 2012, v. 93, n. 6, p. 450, doi. 10.1111/j.1365-2613.2012.00840.x
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- Article
Reduced ability of transforming growth factor-alpha to induce EGF receptor heterodimerization and downregulation suggests a mechanism of oncogenic synergy with ErbB2.
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- Oncogene, 1997, v. 15, n. 18, p. 2219, doi. 10.1038/sj.onc.1201595
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- Article
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0390-4
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- Article
Transforming growth factor-alpha short-circuits downregulation of the epidermal growth factor receptor.
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- Journal of Cellular Physiology, 1999, v. 179, n. 1, p. 52, doi. 10.1002/(SICI)1097-4652(199904)179:1<52::AID-JCP7>3.0.CO;2-M
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- Article
Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations.
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- Otolaryngology-Head & Neck Surgery, 2012, v. 147, n. 5, p. 932, doi. 10.1177/0194599812453553
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- Article
Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations.
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- 2011
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- Abstract
Genotype-Phenotype Correlation of MELAS over 3 Generations
- Published in:
- 2010
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- Publication type:
- Abstract
Antioxidant enzymes, presbycusis, and ethnic variability
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- Otolaryngology-Head & Neck Surgery, 2010, v. 143, n. 2, p. 263, doi. 10.1016/j.otohns.2010.03.024
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- Article
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct
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- Otolaryngology-Head & Neck Surgery, 2009, v. 141, n. 4, p. 502, doi. 10.1016/j.otohns.2009.07.004
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- Article
R106: SLC26A4 Mutations in SNHL with EVA in a Chinese Population
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- 2007
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- Publication type:
- Abstract
R093: Characterization of Knockout Mouse Model for USH1C
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- 2007
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- Publication type:
- Abstract
R101: 11 Novel Mutations in Patients with Usher Syndrome Type II
- Published in:
- 2007
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- Publication type:
- Abstract