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Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
de Geus CM, Free RH, Verbist BM, Sival DA, Blake KD, Meiners LC, van Ravenswaaij-Arts CMA. de Geus CM, et al. Among authors: verbist bm. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):450-464. doi: 10.1002/ajmg.c.31593. Epub 2017 Nov 23. Am J Med Genet C Semin Med Genet. 2017. PMID: 29168326 Free PMC article. Review.
In Vivo Inner Ear Imaging at 7 T.
van der Jagt AM, Brink WM, Webb A, Frijns JH, Verbist BM. van der Jagt AM, et al. Among authors: verbist bm. Otol Neurotol. 2015 Sep;36(8):1458-9. doi: 10.1097/MAO.0000000000000826. Otol Neurotol. 2015. PMID: 26171673 No abstract available.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC; DOOFNL Consortium; Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H. Wesdorp M, et al. Hum Genet. 2018 May;137(5):389-400. doi: 10.1007/s00439-018-1880-5. Epub 2018 May 12. Hum Genet. 2018. PMID: 29754270 Free PMC article.
94 results