Your search returned 31 results.

Results
	21.	Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. [electronic resource] by Kleefstra, T Smidt, M Banning, M J G Oudakker, A R Van Esch, H de Brouwer, A P M Nillesen, W Sistermans, E A Hamel, B C J de Bruijn, D Fryns, J-P Yntema, H G Brunner, H G de Vries, B B A van Bokhoven, H Producer: 20060803 In: Journal of medical genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. [electronic resource] by Vanmolkot, K R J Stroink, H Koenderink, J B Kors, E E van den Heuvel, J J M W van den Boogerd, E H Stam, A H Haan, J De Vries, B B A Terwindt, G M Frants, R R Ferrari, M D van den Maagdenberg, A M J M Producer: 20060425 In: Annals of neurology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. [electronic resource] by Lugtenberg, D de Brouwer, A P M Kleefstra, T Oudakker, A R Frints, S G M Schrander-Stumpel, C T R M Fryns, J P Jensen, L R Chelly, J Moraine, C Turner, G Veltman, J A Hamel, B C J de Vries, B B A van Bokhoven, H Yntema, H G Producer: 20060616 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. [electronic resource] by Jongmans, M C J Admiraal, R J van der Donk, K P Vissers, L E L M Baas, A F Kapusta, L van Hagen, J M Donnai, D de Ravel, T J Veltman, J A Geurts van Kessel, A De Vries, B B A Brunner, H G Hoefsloot, L H van Ravenswaaij, C M A Producer: 20060616 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. [electronic resource] by van Bon, B W M Coe, B P Bernier, R Green, C Gerdts, J Witherspoon, K Kleefstra, T Willemsen, M H Kumar, R Bosco, P Fichera, M Li, D Amaral, D Cristofoli, F Peeters, H Haan, E Romano, C Mefford, H C Scheffer, I Gecz, J de Vries, B B A Eichler, E E Producer: 20160916 In: Molecular psychiatry vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. [electronic resource] by Bramswig, Nuria C Lüdecke, H-J Pettersson, M Albrecht, B Bernier, R A Cremer, K Eichler, E E Falkenstein, D Gerdts, J Jansen, S Kuechler, A Kvarnung, M Lindstrand, A Nilsson, D Nordgren, A Pfundt, R Spruijt, L Surowy, H M de Vries, B B A Wieland, T Engels, H Strom, T M Kleefstra, T Wieczorek, D Producer: 20170726 In: Human genetics vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. [electronic resource] by van den Akker, W M R Brummelman, I Martis, L M Timmermans, R N Pfundt, R Kleefstra, T Willemsen, M H Gerkes, E H Herkert, J C van Essen, A J Rump, P Vansenne, F Terhal, P A van Haelst, M M Cristian, I Turner, C E Cho, M T Begtrup, A Willaert, R Fassi, E van Gassen, K L I Stegmann, A P A de Vries, B B A Schuurs-Hoeijmakers, J H M Producer: 20190925 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. [electronic resource] by van Bon, B W M Koolen, D A Borgatti, R Magee, A Garcia-Minaur, S Rooms, L Reardon, W Zollino, M Bonaglia, M C De Gregori, M Novara, F Grasso, R Ciccone, R van Duyvenvoorde, H A Aalbers, A M Guerrini, R Fazzi, E Nillesen, W M McCullough, S Kant, S G Marcelis, C L Pfundt, R de Leeuw, N Smeets, D Sistermans, E A Wit, J M Hamel, B C Brunner, H G Kooy, F Zuffardi, O de Vries, B B A Producer: 20080811 In: Journal of medical genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. [electronic resource] by Koolen, D A Sharp, A J Hurst, J A Firth, H V Knight, S J L Goldenberg, A Saugier-Veber, P Pfundt, R Vissers, L E L M Destrée, A Grisart, B Rooms, L Van der Aa, N Field, M Hackett, A Bell, K Nowaczyk, M J M Mancini, G M S Poddighe, P J Schwartz, C E Rossi, E De Gregori, M Antonacci-Fulton, L L McLellan, M D Garrett, J M Wiechert, M A Miner, T L Crosby, S Ciccone, R Willatt, L Rauch, A Zenker, M Aradhya, S Manning, M A Strom, T M Wagenstaller, J Krepischi-Santos, A C Vianna-Morgante, A M Rosenberg, C Price, S M Stewart, H Shaw-Smith, C Brunner, H G Wilkie, A O M Veltman, J A Zuffardi, O Eichler, E E de Vries, B B A Producer: 20081231 In: Journal of medical genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. [electronic resource] by van Bon, B W M Mefford, H C Menten, B Koolen, D A Sharp, A J Nillesen, W M Innis, J W de Ravel, T J L Mercer, C L Fichera, M Stewart, H Connell, L E Ounap, K Lachlan, K Castle, B Van der Aa, N van Ravenswaaij, C Nobrega, M A Serra-Juhé, C Simonic, I de Leeuw, N Pfundt, R Bongers, E M Baker, C Finnemore, P Huang, S Maloney, V K Crolla, J A van Kalmthout, M Elia, M Vandeweyer, G Fryns, J P Janssens, S Foulds, N Reitano, S Smith, K Parkel, S Loeys, B Woods, C G Oostra, A Speleman, F Pereira, A C Kurg, A Willatt, L Knight, S J L Vermeesch, J R Romano, C Barber, J C Mortier, G Pérez-Jurado, L A Kooy, F Brunner, H G Eichler, E E Kleefstra, T de Vries, B B A Producer: 20091102 In: Journal of medical genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. [electronic resource] by Makrythanasis, P van Bon, B W Steehouwer, M Rodríguez-Santiago, B Simpson, M Dias, P Anderlid, B M Arts, P Bhat, M Augello, B Biamino, E Bongers, E M H F Del Campo, M Cordeiro, I Cueto-González, A M Cuscó, I Deshpande, C Frysira, E Izatt, L Flores, R Galán, E Gener, B Gilissen, C Granneman, S M Hoyer, J Yntema, H G Kets, C M Koolen, D A Marcelis, C l Medeira, A Micale, L Mohammed, S de Munnik, S A Nordgren, A Psoni, S Reardon, W Revencu, N Roscioli, T Ruiterkamp-Versteeg, M Santos, H G Schoumans, J Schuurs-Hoeijmakers, J H M Silengo, M C Toledo, L Vendrell, T van der Burgt, I van Lier, B Zweier, C Reymond, A Trembath, R C Perez-Jurado, L Dupont, J de Vries, B B A Brunner, H G Veltman, J A Merla, G Antonarakis, S E Hoischen, A Producer: 20141028 In: Clinical genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)