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Page 1
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S. Ghaffar A, et al. Among authors: riazuddin s. Commun Biol. 2024 Jul 8;7(1):831. doi: 10.1038/s42003-024-06466-1. Commun Biol. 2024. PMID: 38977784 Free PMC article.
Clinical manifestations of DFNB29 deafness.
Ahmed ZM, Riazuddin S, Friedman TB, Riazuddin S, Wilcox ER, Griffith AJ. Ahmed ZM, et al. Among authors: riazuddin s. Adv Otorhinolaryngol. 2002;61:156-60. doi: 10.1159/000066828. Adv Otorhinolaryngol. 2002. PMID: 12408079 No abstract available.
Genetic modifiers of hereditary hearing loss.
Riazuddin S, Ahmed ZM, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Riazuddin S, et al. Adv Otorhinolaryngol. 2002;61:224-9. doi: 10.1159/000066813. Adv Otorhinolaryngol. 2002. PMID: 12408088 No abstract available.
The molecular genetics of Usher syndrome.
Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. Ahmed ZM, et al. Among authors: riazuddin s. Clin Genet. 2003 Jun;63(6):431-44. doi: 10.1034/j.1399-0004.2003.00109.x. Clin Genet. 2003. PMID: 12786748 Review.
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Shabbir MI, et al. Among authors: riazuddin s. J Med Genet. 2006 Aug;43(8):634-40. doi: 10.1136/jmg.2005.039834. Epub 2006 Feb 3. J Med Genet. 2006. PMID: 16459341 Free PMC article.
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov GI, Belyantseva IA, Richardson GP, Friedman TB. Ahmed ZM, et al. Among authors: riazuddin s. J Neurosci. 2006 Jun 28;26(26):7022-34. doi: 10.1523/JNEUROSCI.1163-06.2006. J Neurosci. 2006. PMID: 16807332 Free PMC article.
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S. Khan SY, et al. Among authors: riazuddin s. Hum Mutat. 2007 May;28(5):417-23. doi: 10.1002/humu.20469. Hum Mutat. 2007. PMID: 17226784
397 results