Skip to contents

  1. Marcogliese, Paul C.; Shashi, Vandana; Spillmann, Rebecca C.; Stong, Nicholas; Rosenfeld, Jill A.; Koenig, Mary Kay; Martínez-Agosto, Julián A.; Herzog, Matthew; Chen, Agnes H.; Dickson, Patricia I.; Lin, Henry J.; Vera, Moin U.; Salamon, Noriko; Graham, John M.; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; [...]

    IRF2BPL Is Associated with Neurological Phenotypes

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2018

    Published in: The American Journal of Human Genetics, 103 (2018) 2, Seite 245-260

  2. Marcogliese, Paul C.; Shashi, Vandana; Spillmann, Rebecca C.; Stong, Nicholas; Rosenfeld, Jill A.; Koenig, Mary Kay; Martínez-Agosto, Julián A.; Herzog, Matthew; Chen, Agnes H.; Dickson, Patricia I.; Lin, Henry J.; Vera, Moin U.; Salamon, Noriko; Graham, John M.; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; [...]

    IRF2BPL Is Associated with Neurological Phenotypes

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2018

    Published in: The American Journal of Human Genetics, 103 (2018) 3, Seite 456

  3. Schneeberger, Pauline E; Kortüm, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, René; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D; Coci, Emanuele G; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M; Javaher-Haghighi, Poupak; Bedeschi, Maria F; Ajmone, Paola F; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; [...]

    Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2020

    Published in: Brain, 143 (2020) 8, Seite 2437-2453