Výsledky vyhledávání - Thomas Besnard

P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder Autor Sam Bradbrook, Gail Graham, Melissa Carter, Maria Kibaek, Martin Larsen, Christina Fagerberg, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Bertrand Isidor, Stéphane Bezieau, Benjamin Cogné, Marie Vincent, Katherine Bjorgo, Thomas Courtin, Lisa Emrick, Jill Rosenfeld, Undiagnosed Diseases Network, Julian Martinez-Agosto, Mathilde Heulin, Gilles Morin, Pauline Monin, Louis Januel, Marie-Noëlle Bonnet-Dupeyron, Mathilde Pujalte, Kim Worley, Monika Weisz-Hubshman, Patricia Dickson, Michelle Thompson, Julien Marcadier

Získat plný text

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder Autor James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R. Curtis Rogers, Barbara R. DuPont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M. Wentzensen, Blake Vuocolo, Seema R. Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J. Sanders, Sarah P. Blagden

Získat plný text

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders Autor Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain, Camille Desdouets, Séverine Commet, Changlian Zhu, Yiran Xu, Yangong Wang, Tony Roscioli, Frederic Tran-Mau-Them, Laurence Faivre, Julien Maraval, Julian Delanne, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Céline Jost, Marc Planes, Susan Hiatt, Patricia Wheeler, Claudia Gonzaga-Jauregui, Heng Wang, Baozhong Xin, Valerie Sency, Michael C. Kruer, Somayeh Bakhtiari, Patrick Sulem, Cynthia Curry, Trine Prescott, Gertrud Strobl-Wildemann, Theresa Brunet, Martine Doco Fenzy, Thomas Courtin, Céline Poirsier, Trine Bjørg Hammer, Christina D. Fenger, Melissa MacPherson, Kosuke Izumi, Jacqueline Leonard, Dong Li, Elaine H. Zackai, Ian A. Glass, Scott Ward, Philippe M. Campeau, Maria Carla Hermida Borroto, Laurence Le Moigno, Hilde Van Esch, Liesbeth De Waele, Daniel G. Calame, James R. Lupski, Giulia Barcia, Cristina Peduto, Pauline Planté-Bordeneuve, Lucie Dupuis, Roberto Mendoza-Londono, Dimitri J. Stavropoulos, Jennifer Gillibert-Duplantier, Thomas Besnard, Laura Do Souto Ferreira, Benjamin Cogné, Stéphane Bézieau, Arnaud Droit, Laurent Corcos, Eric Lippert, Claude Férec, Sebastien Küry, Delphine G. Bernard

Získat plný text

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies Autor Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas J. Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna M. Hajdukowicz, Franziska G. Thiel, Sophie Wolfgramm, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Yann Verrès, Audrey Dangoumau, Léa Poirier, Ingrid M. Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A. Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G. Monaghan, Sureni V. Mullegama, Catharina M. L. Nienke Volker-Touw, Koen L. I. van Gassen, Renske Oegema, Mirjam S. de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V. Fabie, Raphael A. Bernier, Tychele N. Turner, Siddharth Srivastava, Kira A. Dies, Lindsay C. Swanson, Carrie Costin, Alali Abdulrazak, Rebekah K. Jobling, John Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B. Beck, May Christine V. Malicdan, David R. Adams, Lynne Wolfe, Rebecca D. Ganetzky, Colleen C. Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T. Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, MJ Hajianpour, Gregory Costain, D’Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark J. Hamilton, Lisa J. Bryson, Elaine Cleary, Sacha Weber, Trevor L. Hoffman, Anna M. Cueto-González, Eduardo F. Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah J. Langas, Anne M. McRae, Mathieu K. Lessard, Maria Daniela D’Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B. Kamphausen, Viktoria Bothe, Lorraine Potocki, Eric Olinger, Yves Sznajer, Elsa Wiame, Michelle L. Thompson, Molly C. Schroeder, Catherine Gooch, Raphael A. Smith, Arti Pandya, Larissa M. Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Clémentine Ripoll, Stéphanie Bigou, Frédéric Laumonnier, Peter W. Hildebrand, Evan E. Eichler, Kirsty McWalter, Peter M. Krawitz, Florence Roux-Dalvai, Ype Elgersma, Julien Marcoux, Marie-Pierre Bousquet, Arnaud Droit, Jeremie Poschmann, Andreas M. Grabrucker, Francois V. Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke Krüger

Získat plný text