Authors: van Bokhoven, H Hamel, BCJ Bamshad, M Sangiorgi, E Gurrieri, F Duijf, PHG Vanmolkot, KRJ van Beusekom, E van Beersum, SEC Celli, J Merkx, GFM Tenconi, R Fryns, JP Verloes, A Newbury-Ecob, RA Raas-Rotschild, A Majewski, F Beemer, FA Janecke, A Chitayat, D Crisponi, G Kayserili, H Yates, JRW Neri, G Brunner, HG

Citation: H. Van Bokhoven et al., p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation, AM J HU GEN, 69(3), 2001, pp. 481-492

Authors: van Bokhoven, H Celli, J Kayserili, H van Beusekom, E Balci, S Brussel, W Skovby, F Kerr, B Percin, EF Akarsu, N Brunner, HG

Citation: H. Van Bokhoven et al., Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome, NAT GENET, 25(4), 2000, pp. 423-426

Authors: Crow, YJ Jackson, AP Roberts, E van Beusekom, E Barth, P Corry, P Ferrie, CD Hamel, BCJ Jayatunga, R Karbani, G Kalmanchey, R Kelemen, A King, M Kumar, R Livingstone, J Massey, R McWilliam, R Meager, A Rittey, C Stephenson, JBP Tolmie, JL Verrips, A Voit, T van Bokhoven, H Brunner, HG Woods, CG

Citation: Yj. Crow et al., Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21, AM J HU GEN, 67(1), 2000, pp. 213-221

Authors: Celli, J van Beusekom, E Hennekam, RCM Gallardo, ME Smeets, DFCM de Cordoba, SR Innis, JW Frydman, M Konig, R Kingston, H Tolmie, J Govaerts, LCP van Bokhoven, H Brunner, HG

Citation: J. Celli et al., Familial syndromic esophageal atresia maps to 2p23-p24, AM J HU GEN, 66(2), 2000, pp. 436-444

Authors: de Kok, YJM Bom, SJH Brunt, TM Kemperman, MH van Beusekom, E van der Velde-Visser, SD Robertson, NG Morton, CC Huygen, PLM Verhagen, WIM Brunner, HG Cremers, CWRJ Cremers, FPM

Citation: Yjm. De Kok et al., A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects, HUM MOL GEN, 8(2), 1999, pp. 361-366