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	1.	Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome. [electronic resource] by Strehlow, Vincent Swinkels, Marielle E M Thomas, Rhys H Rapps, Nora Syrbe, Steffen Dorn, Thomas Lemke, Johannes R Publication details: Molecular syndromology Sep 2016 In: Molecular syndromology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Loss-of-function variants of [electronic resource] by Wagnon, Jacy L Barker, Bryan S Ottolini, Matteo Park, Young Volkheimer, Alicia Valdez, Purnima Swinkels, Marielle E M Patel, Manoj K Meisler, Miriam H Publication details: Neurology. Genetics Aug 2017 In: Neurology. Genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. [electronic resource] by Boerma, Ragna S Braun, Kees P van den Broek, Marcel P H van Berkestijn, Frederique M C Swinkels, Marielle E Hagebeuk, Eveline O Lindhout, Dick van Kempen, Marjan Boon, Maartje Nicolai, Joost de Kovel, Carolien G Brilstra, Eva H Koeleman, Bobby P C Producer: 20160519 In: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Central 22q11.2 deletions. [electronic resource] by Rump, Patrick de Leeuw, Nicole van Essen, Anthonie J Verschuuren-Bemelmans, Corien C Veenstra-Knol, Hermine E Swinkels, Mariëlle E M Oostdijk, Wilma Ruivenkamp, Claudia Reardon, Willie de Munnik, Sonja Ruiter, Mariken Frumkin, Ayala Lev, Dorit Evers, Christina Sikkema-Raddatz, Birgit Dijkhuizen, Trijnie van Ravenswaaij-Arts, Conny M Producer: 20160516 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. [electronic resource] by Schuurs-Hoeijmakers, Janneke H M Oh, Edwin C Vissers, Lisenka E L M Swinkels, Mariëlle E M Gilissen, Christian Willemsen, Michèl A Holvoet, Maureen Steehouwer, Marloes Veltman, Joris A de Vries, Bert B A van Bokhoven, Hans de Brouwer, Arjan P M Katsanis, Nicholas Devriendt, Koenraad Brunner, Han G Producer: 20130214 In: American journal of human genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. [electronic resource] by Boerma, Ragna S Braun, Kees P van den Broek, Marcel P H van de Broek, Maarten P H van Berkestijn, Frederique M C Swinkels, Marielle E Hagebeuk, Eveline O Lindhout, Dick van Kempen, Marjan Boon, Maartje Nicolai, Joost de Kovel, Carolien G Brilstra, Eva H Koeleman, Bobby P C Producer: 20161027 In: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. [electronic resource] by Callewaert, Bert L Loeys, Bart L Ficcadenti, Anna Vermeer, Sascha Landgren, Magnus Kroes, Hester Y Yaron, Yuval Pope, Michael Foulds, Nicola Boute, Odile Galán, Francisco Kingston, Helen Van der Aa, Nathalie Salcedo, Iratxe Swinkels, Marielle E Wallgren-Pettersson, Carina Gabrielli, Orazio De Backer, Julie Coucke, Paul J De Paepe, Anne M Producer: 20090528 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. [electronic resource] by Swinkels, Mariëlle E M Simons, Annet Smeets, Dominique F Vissers, Lisenka E Veltman, Joris A Pfundt, Rolph de Vries, Bert B A Faas, Brigitte H W Schrander-Stumpel, Connie T R M McCann, Emma Sweeney, Elizabeth May, Paul Draaisma, Jos M Knoers, Nine V van Kessel, Ad Geurts van Ravenswaaij-Arts, Conny M A Producer: 20080626 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Structural genomic variation in childhood epilepsies with complex phenotypes. [electronic resource] by Helbig, Ingo Swinkels, Marielle E M Aten, Emmelien Caliebe, Almuth van 't Slot, Ruben Boor, Rainer von Spiczak, Sarah Muhle, Hiltrud Jähn, Johanna A van Binsbergen, Ellen van Nieuwenhuizen, Onno Jansen, Floor E Braun, Kees P J de Haan, Gerrit-Jan Tommerup, Niels Stephani, Ulrich Hjalgrim, Helle Poot, Martin Lindhout, Dick Brilstra, Eva H Møller, Rikke S Koeleman, Bobby P C Producer: 20150212 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Dominant missense mutations in ABCC9 cause Cantú syndrome. [electronic resource] by Harakalova, Magdalena van Harssel, Jeske J T Terhal, Paulien A van Lieshout, Stef Duran, Karen Renkens, Ivo Amor, David J Wilson, Louise C Kirk, Edwin P Turner, Claire L S Shears, Debbie Garcia-Minaur, Sixto Lees, Melissa M Ross, Alison Venselaar, Hanka Vriend, Gert Takanari, Hiroki Rook, Martin B van der Heyden, Marcel A G Asselbergs, Folkert W Breur, Hans M Swinkels, Marielle E Scurr, Ingrid J Smithson, Sarah F Knoers, Nine V van der Smagt, Jasper J Nijman, Isaac J Kloosterman, Wigard P van Haelst, Mieke M van Haaften, Gijs Cuppen, Edwin Producer: 20121105 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. [electronic resource] by de Kovel, Carolien G F Trucks, Holger Helbig, Ingo Mefford, Heather C Baker, Carl Leu, Costin Kluck, Christian Muhle, Hiltrud von Spiczak, Sarah Ostertag, Philipp Obermeier, Tanja Kleefuss-Lie, Ailing A Hallmann, Kerstin Steffens, Michael Gaus, Verena Klein, Karl M Hamer, Hajo M Rosenow, Felix Brilstra, Eva H Trenité, Dorothée Kasteleijn-Nolst Swinkels, Marielle E M Weber, Yvonne G Unterberger, Iris Zimprich, Fritz Urak, Lydia Feucht, Martha Fuchs, Karoline Møller, Rikke S Hjalgrim, Helle De Jonghe, Peter Suls, Arvid Rückert, Ina-Maria Wichmann, Heinz-Erich Franke, Andre Schreiber, Stefan Nürnberg, Peter Elger, Christian E Lerche, Holger Stephani, Ulrich Koeleman, Bobby P C Lindhout, Dick Eichler, Evan E Sander, Thomas Producer: 20100212 In: Brain : a journal of neurology vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)