Found: 8

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  • Central 22q11.2 deletions.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711
    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.
    Publication type:
    Article

  • Unstable transmission of a familial complex chromosome rearrangement.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2888, doi. 10.1002/ajmg.a.35580
    By:
    • van Binsbergen, Ellen;
    • Hochstenbach, Ron;
    • Giltay, Jacques;
    • Swinkels, Marielle
    Publication type:
    Article

  • Structural genomic variation in childhood epilepsies with complex phenotypes.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262
    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
    Publication type:
    Article

  • Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 5, p. 652, doi. 10.1038/ejhg.2013.220
    By:
    • 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
    Publication type:
    Article

  • Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1024, doi. 10.1038/ejhg.2012.57
    By:
    • 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
    Publication type:
    Article

  • Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation.

    Published in:
    Brain: A Journal of Neurology, 2009, v. 132, n. 10, p. 2699, doi. 10.1093/brain/awp198
    By:
    • Rotthier, Annelies;
    • Baets, Jonathan;
    • De Vriendt, Els;
    • 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
    Publication type:
    Article

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

    Published in:
    Human Mutation, 2009, v. 30, n. 3, p. 334, doi. 10.1002/humu.20854
    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.
    Publication type:
    Article

  • Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

    Published in:
    Molecular Syndromology, 2016, v. 7, n. 4, p. 239, doi. 10.1159/000448445
    By:
    • Strehlow, Vincent;
    • Swinkels, Marielle E. M.;
    • Thomas, Rhys H.;
    • Rapps, Nora;
    • Syrbe, Steffen;
    • Dorn, Thomas;
    • Lemke, Johannes R.
    Publication type:
    Article