Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
Jongmans, Marjolijn C.J., Hoefsloot, Lies H., van der Donk, Kim P., Admiraal, Ronald J., Magee, Alex, van de Laar, Ingrid, Hendriks, Yvonne, Verheij, Joke B.G.M., Walpole, Ian, Brunner, Han G., van Ravenswaaij, Conny M.A.
Published in American journal of medical genetics. Part A (01.01.2008)
Published in American journal of medical genetics. Part A (01.01.2008)
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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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Clinical and Molecular Evaluation of Probands and Family Members with Familial Exudative Vitreoretinopathy
Boonstra, F. Nienke, van Nouhuys, C. Erik, Schuil, Jose, de Wijs, Ilse J, van der Donk, Kim P, Nikopoulos, Kostas, Mukhopadhyay, Arijit, Scheffer, Hans, Tilanus, Mauk A. D, Cremers, Frans P. M, Hoefsloot, Lies H
Published in Investigative ophthalmology & visual science (01.09.2009)
Published in Investigative ophthalmology & visual science (01.09.2009)
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