Kim P. van der Donk

CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics · 2005 · 461 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Familial CHARGE syndrome and the <i>CHD7</i> gene: A recurrent missense mutation, intrafamilial recurrence and variability

Marjolijn C.J. Jongmans, Lies H. Hoefsloot, Kim P. van der Donk et al. · American Journal of Medical Genetics Part A · 2007 · 86 citations

Life Sciences, Genetics, Molecular Genetics +15

Clinical and Molecular Evaluation of Probands and Family Members with Familial Exudative Vitreoretinopathy

F. Nienke Boonstra, C. E. van Nouhuys, J. Schuil et al. · Investigative Ophthalmology & Visual Science · 2009 · 83 citations · Full text

Medicine, Genetics, Ophthalmology +15

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

Regie Lyn P. Santos, Yurii S. Aulchenko, P.L.M. Huygen et al. · International Journal of Pediatric Otorhinolaryngology · 2004 · 52 citations

Medicine, Audiology, Genetics +12