Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

অনুযায়ী Broix, Loïc, Jagline, Hélène, Ivanova, Ekaterina, Schmucker, Stéphane, Drouot, Nathalie, Clayton-Smith, Jill, Pagnamenta, Alistair T., Metcalfe, Kay.A., Isidor, Bertrand, Louvier, Ulrike Walther, Poduri, Annapurna, Taylor, Jenny C., Tilly, Peggy, Poirier, Karine, Saillour, Yoann, Lebrun, Nicolas, Stemmelen, Tristan, Rudolf, Gabrielle, Muraca, Giuseppe, Saintpierre, Benjamin, Elmorjani, Adrienne, Moïse, Martin, Weirauch, Nathalie Bednarek, Guerrini, Renzo, Boland, Anne, Olaso, Robert, Masson, Cecile, Tripathy, Ratna, Keays, David, Beldjord, Cherif, Nguyen, Laurent, Godin, Juliette, Kini, Usha, Nischké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Sumara, Izabela, Hinckelmann, Maria-Victoria, Chelly, Jamel
প্রকাশিত Nat Genet (2016)