Sökresultat - Mariëlle E.M. Swinkels

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  1. 1
    Loss-of-function variants of <i>SCN8A</i> in intellectual disability without seizures

    Loss-of-function variants of <i>SCN8A</i> in intellectual disability without seizures av Jacy L. Wagnon, Bryan S. Barker, Matteo Ottolini, Young Joo Park, Alicia D. Volkheimer, Purnima Valdez, Mariëlle E.M. Swinkels, Manoj K. Patel, Miriam H. Meisler

    Publicerad 2017
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  2. 2
    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation av Annelies Rotthier, Jonathan Baets, Els De Vriendt, Alice K. Jacobs, Michaela Auer‐Grumbach, Nicolas Lévy, Nathalie Bonello‐Palot, Sara Şebnem Kılıç, Joachim Weis, A. Nascimento, Mariëlle E.M. Swinkels, Moyo C. Kruyt, Albena Jordanova, Peter De Jonghe, Vincent Timmerman

    Publicerad 2009
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  3. 3
    Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

    Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach av Ragna S. Boerma, Kees P. J. Braun, Maarten P.H. van de Broek, Frédérique M.C. van Berkestijn, Mariëlle E.M. Swinkels, Eveline O. Hagebeuk, Dick Lindhout, Marjan van Kempen, Maartje Boon, Joost Nicolai, Carolien G. F. de Kovel, Eva H. Brilstra, Bobby P.C. Koeleman

    Publicerad 2015
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  4. 4
    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome av Janneke Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers, Mariëlle E.M. Swinkels, Christian Gilissen, Michèl A.A.P. Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A. Veltman, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer, Nicholas Katsanis, Koenraad Devriendt, Han G. Brunner

    Publicerad 2012
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  5. 5
    Central 22q11.2 deletions

    Central 22q11.2 deletions av Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    Publicerad 2014
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  6. 6
    Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

    Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature av Bert Callewaert, Bart Loeys, Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y. Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, Francisco Galán, Helen Kingston, Nathalie Van der Aa, Iratxe Salcedo, Mariëlle E.M. Swinkels, Carina Wallgren‐Pettersson, Orazio Gabrielli, Julie De Backer, Paul Coucke, Anne M. De Paepe

    Publicerad 2008
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  7. 7
    Mutations in <i>GABRB3</i>

    Mutations in <i>GABRB3</i> av Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence Lion François, Gaëtan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Mariëlle E.M. Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T. Myers, Line H.G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, К. Yu. Мukhin, Hans Holthausen, Koen L.I. van Gassen, Hans A. Dahl, Niels Tommerup, Heather C. Mefford, Guido Rubboli, Renzo Guerrini, Johannes R. Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic

    Publicerad 2017
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  8. 8
    Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies av Carolien G. F. de Kovel, Holger Trucks, Katherine L. Helbig, Heather C. Mefford, Carl Baker, Costin Leu, Christian Kluck, Hiltrud Muhle, Sarah von Spiczak, P Ostertag, Tanja Obermeier, Ailing A. Kleefuß‐Lie, Kerstin Hallmann, Michael Steffens, Verena Gaus, Karl Martin Klein, Hajo M. Hamer, Felix Rosenow, Eva H. Brilstra, Dorothee Kasteleijn‐Nolst Trenité, Mariëlle E.M. Swinkels, Yvonne G. Weber, Iris Unterberger, Fritz Zimprich, L Urak, Martha Feucht, Karoline Fuchs, Rikke S. Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, I.-M. Ruckert, H.‐Erich Wichmann, André Franke, S. Schreiber, Peter Nürnberg, Christian E. Elger, Holger Lerche, Ulrich Stephani, Bobby P.C. Koeleman, Dick Lindhout, Evan E. Eichler, T. Sander

    Publicerad 2009
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