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Causes of permanent childhood hearing impairment.
Korver AM, Admiraal RJ, Kant SG, Dekker FW, Wever CC, Kunst HP, Frijns JH, Oudesluys-Murphy AM; DECIBEL-collaborative study group. Korver AM, et al. Among authors: kunst hp. Laryngoscope. 2011 Feb;121(2):409-16. doi: 10.1002/lary.21377. Laryngoscope. 2011. PMID: 21271598 Review.
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG. Zazo Seco C, et al. Among authors: kunst hp. Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000701 Free PMC article.
External ear anomalies and hearing impairment in Noonan Syndrome.
van Trier DC, van Nierop J, Draaisma JMT, van der Burgt I, Kunst H, Croonen EA, Admiraal RJC. van Trier DC, et al. Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):874-878. doi: 10.1016/j.ijporl.2015.03.021. Epub 2015 Apr 1. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25862627
Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.
Verver EJ, Freriks K, Sas TC, Huygen PL, Pennings RJ, Smeets DF, Hermus AR, Menke LA, Wit JM, Otten BJ, van Alfen-van der Velden JA, de Muinck Keizer-Schrama SM, Topsakal V, Admiraal RJ, Timmers HJ, Kunst HP. Verver EJ, et al. Among authors: kunst hp. Otol Neurotol. 2014 Oct;35(9):1577-84. doi: 10.1097/MAO.0000000000000406. Otol Neurotol. 2014. PMID: 25133471 Clinical Trial.
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H. Schraders M, et al. Among authors: kunst hp. Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549342 Free PMC article.
148 results