Risultati della ricerca - Alexandre Mathieu

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  1. 1
    Les transformations des pratiques professionnelles lors des téléconsultations médicales

    Les transformations des pratiques professionnelles lors des téléconsultations médicales di Alexandre Mathieu-Fritz, Laurence Esterle

    Pubblicazione 2013
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  2. 2
    Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

    Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome di Aline Vitrac, Claire S. Leblond, Thomas Rolland, Freddy Cliquet, Alexandre Mathieu, Anna Maruani, Richard Delorme, Michael P. Schön, Andreas M. Grabrucker, Conny M.A. van Ravenswaaij‐Arts, Katy Phelan, Anne‐Claude Tabet, Thomas Bourgeron

    Pubblicazione 2023
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  3. 3
    Both rare and common genetic variants contribute to autism in the Faroe Islands

    Both rare and common genetic variants contribute to autism in the Faroe Islands di Claire S. Leblond, Freddy Cliquet, Coralie Carton, Guillaume Huguet, Alexandre Mathieu, Thomas Kergrohen, Julien Buratti, Nathalie Lemière, Laurence Cuisset, Thierry Bienvenu, Anne Boland, Jean‐François Deleuze, Tórmóður Stórá, Rannva Biskupstoe, Jónrit Halling, Guðrið Andorsdóttir, Eva Billstedt, Christopher Gillberg, Thomas Bourgeron

    Pubblicazione 2019
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  4. 4
    Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

    Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples di Guillaume Huguet, Catherine Schramm, Élise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu, Jean‐Baptiste Poline, Eva Loth, Roberto Toro, Günter Schumann, Patricia Conrod, Zdenka Pausová, Celia M.T. Greenwood, Tomáš Paus, Thomas Bourgeron, Sébastien Jacquemont

    Pubblicazione 2018
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  5. 5
    Phenotypic effects of genetic variants associated with autism

    Phenotypic effects of genetic variants associated with autism di Thomas Rolland, Freddy Cliquet, Richard Anney, Clara Moreau, Nicolas Traut, Alexandre Mathieu, Guillaume Huguet, Jinjie Duan, Varun Warrier, Swan Portalier, Louise Dry, Claire S. Leblond, Élise Douard, Frédérique Amsellem, Simon Malesys, Anna Maruani, Roberto Toro, Anders D. Børglum, Jakob Grove, Simon Baron‐Cohen, Alan Packer, Wendy K. Chung, Sébastien Jacquemont, Richard Delorme, Thomas Bourgeron

    Pubblicazione 2023
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  6. 6
    CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

    CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders di Oriane Mercati, Guillaume Huguet, Anne Danckaert, Gwenaëlle André-Leroux, A. Maruani, Marco Bellinzoni, Thomas Rolland, Laura Gouder, Alexandre Mathieu, Julien Buratti, Frédérique Amsellem, Max E. Benabou, Julien Van‐Gils, Anita Beggiato, Marina Konyukh, JP Bourgeois, Matthew J. Gazzellone, Ryan K. C. Yuen, Susan Walker, Marc Delépine, Anne Boland, Béatrice Regnault, M. François, T. Van Den Abbeele, Anne-Laure Mosca-Boidron, Laurence Faivre, Yasushi Shimoda, Kazutada Watanabe, Dominique Bonneau, Maria Råstam, Marion Leboyer, Stephen W. Scherer, Christopher Gillberg, Richard Delorme, Isabelle Cloëz-Tayarani, Thomas Bourgeron

    Pubblicazione 2016
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  7. 7
    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments di Claire S. Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kévin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M. Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Råstam, I. Carina Gillberg, Gudrun Rappold, Richard Holt, Anthony P. Monaco, Elena Maestrini, Pilar Galán, Delphine Héron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiésa, François Rivier, Dominique Bonneau, Béatrice Regnault, Diana Zélénika, Marc Delépine, Mark Lathrop, Damien Sanlaville, Caroline Schluth–Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J. Schmeißer, Tobias M. Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W. Scherer, Guy A. Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron

    Pubblicazione 2014
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  8. 8
    A framework to identify contributing genes in patients with Phelan-McDermid syndrome

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome di Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot‐Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Bénéteau, Olivier Pichon, Bertrand Isidor, Albert David, Laïla El Khattabi, Stéphan Kemeny, Laëtitia Gouas, Philippe Vago, Anne‐Laure Mosca‐Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie‐Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gâtinois, Jacques Puechberty, Jean Chiésa, James Lespinasse, Christèle Dubourg, Chloé Quēlin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron

    Pubblicazione 2017
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  9. 9
    Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

    Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 di Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Éloi Magnin, Anne‐Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Gießelmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornéa, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean‐François Deleuze, Yannick Delpu, Mario Davide Maria Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Édouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpaß, Bernhard Horsthemke, Samuel F. Berkovic, Francesca Bisulli, Francesco Brancati, Laura Canafoglia, Giorgio Casari, Renzo Guerrini, Hiroyuki Ishiura, Laura Licchetta, Davide Mei, Tommaso Pippucci, Lynette G. Sadleir, Ingrid E. Scheffer, Pasquale Striano, Paolo Tinuper, Shoji Tsuji, Federico Zara, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gécz, Mark Corbett, Marina A.J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne

    Pubblicazione 2019
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