Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

por Koemans, Tom S., Kleefstra, Tjitske, Chubak, Melissa C., Stone, Max H., Reijnders, Margot R. F., de Munnik, Sonja, Willemsen, Marjolein H., Fenckova, Michaela, Stumpel, Connie T. R. M., Bok, Levinus A., Sifuentes Saenz, Margarita, Byerly, Kyna A., Baughn, Linda B., Stegmann, Alexander P. A., Pfundt, Rolph, Zhou, Huiqing, van Bokhoven, Hans, Schenck, Annette, Kramer, Jamie M.
Publicado 2017

Clinical spectrum of STX1B-related epileptic disorders

por Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian
Publicado 2019