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Results 1 - 10 of 14 for "Deafness," autosomal dominant 16
  1. ... DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16 DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22 DEAFNESS, ...
  2. ... doi: 10.4161/epi.21568. Epub 2012 Aug 16. Citation on PubMed or Free article on ... cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016 Sep 5;8( ...
  3. ... gamma 1 actin-like protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma-actin Tests of ACTG1 ...
  4. ... DOMINANT; MYP11 MYOPIA 12, AUTOSOMAL DOMINANT; MYP12 MYOPIA 16, AUTOSOMAL DOMINANT; MYP16 MYOPIA 15, AUTOSOMAL DOMINANT; MYP15 MYOPIA 20, ...
  5. ... caused by abnormalities of the inner ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one form of ... Votruba M. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics. 2015 Jan;16(1):69-75. doi: 10.1007/s10048-014- ...
  6. ... Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol Vis. 2010 Jan 12;16:26-35. Citation on PubMed or Free article ...
  7. ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
  8. ... Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Citation on PubMed or Free article on PubMed ...
  9. ... F, Drira M, Ayadi H, Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet. 1997 Jun;16(2):191-3. doi: 10.1038/ng0697-191. ...
  10. ... Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated ...
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