检索结果 - Florent Marguet
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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene 由 Pascale Saugier‐Veber, Florent Marguet, François Lecoquierre, Homa Adle‐Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, M. Brasseur‐Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière
出版 2017Artigo -
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Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma 由 Maxime Fontanilles, Florent Marguet, Ludivine Beaussire, Nicolas Magné, Louis‐Ferdinand Pépin, Cristina Alexandru, Isabelle Tennevet, C. Hanzen, Olivier Langlois, Fabrice Jardin, Annie Laquerrière, Nasrin Sarafan‐Vasseur, Frédéric Di Fiore, Florian Clatot
出版 2020Artigo -
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Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis 由 Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki
出版 2016Artigo -
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Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma 由 Maxime Fontanilles, Florent Marguet, Élodie Bohers, Pierre‐Julien Viailly, Sydney Dubois, Philìppe Bertrand, Vincent Camus, Sylvain Mareschal, Philippe Ruminy, Catherine Maingonnat, Stéphane Leprêtre, Elena-Liana Veresezan, Stéphane Derrey, Hervé Tilly, Jean-Michel Picquenot, Annie Laquerrière, Fabrice Jardin
出版 2017Artigo -
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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease 由 Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh, Olivier Quenez, Marloes Steehouwer, Stefan H. Lelieveld, Stéphane Rousseau, Anne‐Claire Richard, Manon S. Oud, Florent Marguet, Annie Laquerrière, Christopher M. Morris, Johannes Attems, Colin Smith, Olaf Ansorge, Safa Al Sarraj, Thierry Frébourg, Dominique Campion, Didier Hannequin, David Wallon, Christian Gilissen, Patrick F. Chinnery, Joris A. Veltman, Alexander Hoischen
出版 2018Artigo -
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Differential transcript usage unravels gene expression alterations in Alzheimer’s disease human brains 由 Diego Marques‐Coelho, Lukas da Cruz Carvalho Iohan, Ana Raquel Melo de Farias, Amandine Flaig, Franck Letournel, Marie‐Laure Martin‐Négrier, Françoise Chapon, Maxime Faisant, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, Mathilde Duchesne, David Meyronnet, Nathalie Streichenberger, A. Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Charles Duyckaerts, Danielle Seilhean, Serge Milin, Dan Christian Chiforeanu, A. Laquérrière, Florent Marguet, Béatrice Lannes, Jean‐Charles Lambert, Marcos R. Costa
出版 2021Artigo -
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita 由 Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki
出版 2021Artigo
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Arthrogryposis multiplex congenita