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Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Among authors: maier h. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.
Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice.
Huebner AK, Maier H, Maul A, Nietzsche S, Herrmann T, Praetorius J, Hübner CA. Huebner AK, et al. Among authors: maier h. J Assoc Res Otolaryngol. 2019 Jun;20(3):233-245. doi: 10.1007/s10162-019-00719-1. Epub 2019 Apr 18. J Assoc Res Otolaryngol. 2019. PMID: 31001720 Free PMC article.
Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice.
Nolan LS, Maier H, Hermans-Borgmeyer I, Girotto G, Ecob R, Pirastu N, Cadge BA, Hübner C, Gasparini P, Strachan DP, Davis A, Dawson SJ. Nolan LS, et al. Among authors: maier h. Neurobiol Aging. 2013 Aug;34(8):2077.e1-9. doi: 10.1016/j.neurobiolaging.2013.02.009. Epub 2013 Mar 26. Neurobiol Aging. 2013. PMID: 23540940 Free PMC article.
Leukoencephalopathy upon disruption of the chloride channel ClC-2.
Blanz J, Schweizer M, Auberson M, Maier H, Muenscher A, Hübner CA, Jentsch TJ. Blanz J, et al. Among authors: maier h. J Neurosci. 2007 Jun 13;27(24):6581-9. doi: 10.1523/JNEUROSCI.0338-07.2007. J Neurosci. 2007. PMID: 17567819 Free PMC article.
893 results