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Page 1
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
Clin Genet. 2009 Jan;75(1):65-71. doi: 10.1111/j.1399-0004.2008.01107.x. Epub 2008 Nov 17.
Clin Genet. 2009.
PMID: 19021638
Free PMC article.
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Boonstra FN, van Nouhuys CE, Schuil J, de Wijs IJ, van der Donk KP, Nikopoulos K, Mukhopadhyay A, Scheffer H, Tilanus MA, Cremers FP, Hoefsloot LH.
Boonstra FN, et al. Among authors: van der donk kp.
Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4379-85. doi: 10.1167/iovs.08-3320. Epub 2009 Mar 25.
Invest Ophthalmol Vis Sci. 2009.
PMID: 19324841
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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
Jongmans MC, et al. Among authors: van der donk kp.
J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9.
J Med Genet. 2006.
PMID: 16155193
Free PMC article.
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Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.
Mattocks CJ, Watkins G, Ward D, Janssens T, Bosgoed EA, van der Donk K, Ligtenberg MJ, Pot B, Theelen J, Cross NC, Scheffer H, Matthijs G.
Mattocks CJ, et al. Among authors: van der donk k.
Clin Chem. 2010 Apr;56(4):593-602. doi: 10.1373/clinchem.2009.135426. Epub 2010 Feb 18.
Clin Chem. 2010.
PMID: 20167696
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Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
Jongmans MC, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JB, Walpole I, Brunner HG, van Ravenswaaij CM.
Jongmans MC, et al. Among authors: van der donk kp.
Am J Med Genet A. 2008 Jan 1;146A(1):43-50. doi: 10.1002/ajmg.a.31921.
Am J Med Genet A. 2008.
PMID: 18074359
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Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
Santos RL, Aulchenko YS, Huygen PL, van der Donk KP, de Wijs IJ, Kemperman MH, Admiraal RJ, Kremer H, Hoefsloot LH, Cremers CW.
Santos RL, et al. Among authors: van der donk kp.
Int J Pediatr Otorhinolaryngol. 2005 Feb;69(2):165-74. doi: 10.1016/j.ijporl.2004.08.015.
Int J Pediatr Otorhinolaryngol. 2005.
PMID: 15656949
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