CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, Geurts van Kessel, A, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
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CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome
Jongmans, MCJ, Van Ravenswaaij-Arts, CMA, Pitteloud, N, Ogata, T, Sato, N, Claahsen-van der Grinten, HL, Van Der Donk, K, Seminara, S, Bergman, JEH, Brunner, HG, Crowley Jr, WF, Hoefsloot, LH
Published in Clinical genetics (01.01.2009)
Published in Clinical genetics (01.01.2009)
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Hearing impairment in Dutch patients with connexin 26 ( GJB2) and connexin 30 ( GJB6) mutations
Santos, Regie Lyn P., Aulchenko, Yurii S., Huygen, Patrick L.M., Donk, Kim P. van der, Wijs, Ilse J. de, Kemperman, Martijn H., Admiraal, Ronald J.C., Kremer, Hannie, Hoefsloot, Lies H., Cremers, Cor W.R.J.
Published in International journal of pediatric otorhinolaryngology (01.02.2005)
Published in International journal of pediatric otorhinolaryngology (01.02.2005)
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