Výsledky vyhledávání - Swinkels, Marielle

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome Autor Strehlow, Vincent, Swinkels, Marielle E.M., Thomas, Rhys H., Rapps, Nora, Syrbe, Steffen, Dorn, Thomas, Lemke, Johannes R.

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Loss-of-function variants of SCN8A in intellectual disability without seizures Autor Wagnon, Jacy L., Barker, Bryan S., Ottolini, Matteo, Park, Young, Volkheimer, Alicia, Valdez, Purnima, Swinkels, Marielle E.M., Patel, Manoj K., Meisler, Miriam H.

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Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance Autor Mansour, Sahar, Swinkels, Marielle, Terhal, Paulien A, Wilson, Louise C, Rich, Philip, Van Maldergem, Lionel, Zwijnenburg, Petra JG, Hall, Christine M, Robertson, Stephen P, Newbury-Ecob, Ruth

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Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation Autor Rotthier, Annelies, Baets, Jonathan, Vriendt, Els De, Jacobs, An, Auer-Grumbach, Michaela, Lévy, Nicolas, Bonello-Palot, Nathalie, Kilic, Sara Sebnem, Weis, Joachim, Nascimento, Andrés, Swinkels, Marielle, Kruyt, Moyo C., Jordanova, Albena, De Jonghe, Peter, Timmerman, Vincent

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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome Autor 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.

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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations Autor Vergult, Sarah, Van Binsbergen, Ellen, Sante, Tom, Nowak, Silke, Vanakker, Olivier, Claes, Kathleen, Poppe, Bruce, Van der Aa, Nathalie, van Roosmalen, Markus J, Duran, Karen, Tavakoli-Yaraki, Masoumeh, Swinkels, Marielle, van den Boogaard, Marie-José, van Haelst, Mieke, Roelens, Filip, Speleman, Frank, Cuppen, Edwin, Mortier, Geert, Kloosterman, Wigard P, Menten, Björn

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Structural genomic variation in childhood epilepsies with complex phenotypes Autor 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 PC

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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies Autor Møller, Rikke S., Wuttke, Thomas V., Helbig, Ingo, Marini, Carla, Johannesen, Katrine M., Brilstra, Eva H., Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L., Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T., Larsen, Line H.G., Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L., Dahl, Hans A., Tommerup, Niels, Mefford, Heather C., Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R., Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies Autor 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., Kasteleijn-Nolst Trenité, Dorothée, 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

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