Found: 5
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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970
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- Article
Vestibular dysfunction in DFNB1 deafness.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 993, doi. 10.1002/ajmg.a.33828
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- Article
Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet University.
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- Annals of Human Genetics, 2010, v. 74, n. 1, p. 27, doi. 10.1111/j.1469-1809.2009.00553.x
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- Article
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
- Published in:
- Human Mutation, 2008, v. 29, n. 4, p. 537, doi. 10.1002/humu.20691
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- Article
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.
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- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1155, doi. 10.1093/hmg/ddg127
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- Article