Resultados da pesquisa - Ekaterina L. Ivanova

Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia Por Loïc Broix, Hélène Jagline, Ekaterina L. Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton‐Smith, Alistair T. Pagnamenta, Kay Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C. Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cécile Masson, Ratna Tripathy, David A. Keays, Chérif Beldjord, Laurent Nguyen, Juliette D. Godin, Usha Kini, Patrick Nischké, Jean‐François Deleuze, Nadia Bahi‐Buisson, Izabela Sumara, María-Victoria Hinckelmann, Jamel Chelly

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder Por Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

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