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	1.	Single-centre experience with tunnelled central venous catheters in 150 cancer patients. [electronic resource] by Koolen, D A van Laarhoven, H W M Wobbes, Th Punt, C J A Producer: 20030318 In: The Netherlands journal of medicine vol. 60 Availability: No items available. Save to lists Add to cart (remove)
	2.	Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature. [electronic resource] by Feenstra, I Koolen, D A Van der Pas, J Hamel, B C J Mieloo, H Smeets, D F C M Van Ravenswaaij, C M A Producer: 20061120 In: European journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Pure subtelomeric microduplications as a cause of mental retardation. [electronic resource] by Ruiter, E M Koolen, D A Kleefstra, T Nillesen, W M Pfundt, R de Leeuw, N Hamel, B C J Brunner, H G Sistermans, E A de Vries, B B A Producer: 20071107 In: Clinical genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. [electronic resource] by Feenstra, I Fang, J Koolen, D A Siezen, A Evans, C Winter, R M Lees, M M Riegel, M de Vries, B B A Van Ravenswaaij, C M A Schinzel, A Producer: 20060928 In: European journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis. [electronic resource] by de Leeuw, N Pfundt, R Koolen, D A Neefs, I Scheltinga, I Mieloo, H Sistermans, E A Nillesen, W Smeets, D F de Vries, B B A Knoers, N V A M Producer: 20080312 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)
	6.	A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization. [electronic resource] by Koolen, D A Vissers, L E L M Nillesen, W Smeets, D van Ravenswaaij, C M A Sistermans, E A Veltman, J A de Vries, B B A de Vries, B D A Producer: 20041230 In: Clinical genetics vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). [electronic resource] by Koolen, D A Nillesen, W M Versteeg, M H A Merkx, G F M Knoers, N V A M Kets, M Vermeer, S van Ravenswaaij, C M A de Kovel, C G Brunner, H G Smeets, D de Vries, B B A Sistermans, E A Producer: 20051019 In: Journal of medical genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Treatment Responsiveness in KCNT1-Related Epilepsy. [electronic resource] by Fitzgerald, Mark P Fiannacca, Martina Smith, Douglas M Gertler, Tracy S Gunning, Boudewijn Syrbe, Steffen Verbeek, Nienke Stamberger, Hannah Weckhuysen, Sarah Ceulemans, Berten Schoonjans, An-Sofie Rossi, Massimiliano Demarquay, Geneviève Lesca, Gaetan Olofsson, Kern Koolen, D A Hornemann, Frauke Baulac, Stephanie Rubboli, Guido Minks, Kelly Q Lee, Bohoon Helbig, Ingo Dlugos, Dennis Møller, Rikke S Bearden, David Producer: 20200625 In: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	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)
	10.	A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. [electronic resource] by Molin, Anna-Maja Andrieux, J Koolen, D A Malan, V Carella, M Colleaux, L Cormier-Daire, V David, A de Leeuw, N Delobel, B Duban-Bedu, B Fischetto, R Flinter, F Kjaergaard, S Kok, F Krepischi, A C Le Caignec, C Ogilvie, C Mackie Maia, S Mathieu-Dramard, M Munnich, A Palumbo, O Papadia, F Pfundt, R Reardon, W Receveur, A Rio, M Ronsbro Darling, L Rosenberg, C Sá, J Vallee, L Vincent-Delorme, C Zelante, L Bondeson, M-L Annerén, G Producer: 20120511 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	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)
	12.	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)
	13.	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)