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	1.	Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. [electronic resource] by van Bokhoven, H Celli, J Kayserili, H van Beusekom, E Balci, S Brussel, W Skovby, F Kerr, B Percin, E F Akarsu, N Brunner, H G Producer: 20000828 In: Nature genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. [electronic resource] by de Bernabé, D Beltrán-Valero van Bokhoven, H van Beusekom, E Van den Akker, W Kant, S Dobyns, W B Cormand, B Currier, S Hamel, B Talim, B Topaloglu, H Brunner, H G Producer: 20040223 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Familial syndromic esophageal atresia maps to 2p23-p24. [electronic resource] by Celli, J van Beusekom, E Hennekam, R C Gallardo, M E Smeets, D F de Córdoba, S R Innis, J W Frydman, M König, R Kingston, H Tolmie, J Govaerts, L C van Bokhoven, H Brunner, H G Producer: 20000330 In: American journal of human genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. [electronic resource] by de Kok, Y J Bom, S J Brunt, T M Kemperman, M H van Beusekom, E van der Velde-Visser, S D Robertson, N G Morton, C C Huygen, P L Verhagen, W I Brunner, H G Cremers, C W Cremers, F P Producer: 19990318 In: Human molecular genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. [electronic resource] by Crow, Y J Jackson, A P Roberts, E van Beusekom, E Barth, P Corry, P Ferrie, C D Hamel, B C Jayatunga, R Karbani, G Kálmánchey, R Kelemen, A King, M Kumar, R Livingstone, J Massey, R McWilliam, R Meager, A Rittey, C Stephenson, J B Tolmie, J L Verrips, A Voit, T van Bokhoven, H Brunner, H G Woods, C G Producer: 20000807 In: American journal of human genetics vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. [electronic resource] by van Bokhoven, H Hamel, B C Bamshad, M Sangiorgi, E Gurrieri, F Duijf, P H Vanmolkot, K R van Beusekom, E van Beersum, S E Celli, J Merkx, G F Tenconi, R Fryns, J P Verloes, A Newbury-Ecob, R A Raas-Rotschild, A Majewski, F Beemer, F A Janecke, A Chitayat, D Crisponi, G Kayserili, H Yates, J R Neri, G Brunner, H G Producer: 20010906 In: American journal of human genetics vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. [electronic resource] by Khandelwal, K D Ishorst, N Zhou, H Ludwig, K U Venselaar, H Gilissen, C Thonissen, M van Rooij, I A L M Dreesen, K Steehouwer, M van de Vorst, M Bloemen, M van Beusekom, E Roosenboom, J Borstlap, W Admiraal, R Dormaar, T Schoenaers, J Vander Poorten, V Hens, G Verdonck, A Bergé, S Roeleveldt, N Vriend, G Devriendt, K Brunner, H G Mangold, E Hoischen, A van Bokhoven, H Carels, C E L Producer: 20170525 In: Journal of dental research vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. [electronic resource] by Riazuddin, S Hussain, M Razzaq, A Iqbal, Z Shahzad, M Polla, D L Song, Y van Beusekom, E Khan, A A Tomas-Roca, L Rashid, M Zahoor, M Y Wissink-Lindhout, W M Basra, M A R Ansar, M Agha, Z van Heeswijk, K Rasheed, F Van de Vorst, M Veltman, J A Gilissen, C Akram, J Kleefstra, T Assir, M Z Grozeva, D Carss, K Raymond, F L O'Connor, T D Riazuddin, S A Khan, S N Ahmed, Z M de Brouwer, A P M van Bokhoven, H Riazuddin, S Publication details: Molecular psychiatry Nov 2020 In: Molecular psychiatry vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. [electronic resource] by Riazuddin, S Hussain, M Razzaq, A Iqbal, Z Shahzad, M Polla, D L Song, Y van Beusekom, E Khan, A A Tomas-Roca, L Rashid, M Zahoor, M Y Wissink-Lindhout, W M Basra, M A R Ansar, M Agha, Z van Heeswijk, K Rasheed, F Van de Vorst, M Veltman, J A Gilissen, C Akram, J Kleefstra, T Assir, M Z Grozeva, D Carss, K Raymond, F L O'Connor, T D Riazuddin, S A Khan, S N Ahmed, Z M de Brouwer, A P M van Bokhoven, H Riazuddin, S Producer: 20180305 In: Molecular psychiatry vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)