Zoekresultaten - Mathilde Lefebvre
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1
Non-invasive neuromodulation for tinnitus: A meta-analysis and modeling studies door Mathilde Lefebvre-Demers, Nicolas Doyon, Shirley Fecteau
Gepubliceerd in 2020Revisão -
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Efficacy of daptomycin combined with rifampicin for the treatment of experimental meticillin-resistant Staphylococcus aureus (MRSA) acute osteomyelitis door Mathilde Lefebvre, Cédric Jacqueline, Gilles Amador, V. Le Mabecque, A. F. Miegeville, G. Potel, J. Caillon, Nathalie Asseray
Gepubliceerd in 2010Artigo -
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Selective mitochondrial DNA degradation following double-strand breaks door Amandine Moretton, Frédéric Morel, Bertil Macao, Philippe Lachaume, Layal Ishak, Mathilde Lefebvre, Isabelle Garreau-Balandier, Patrick Vernet, Maria Falkenberg, Géraldine Farge
Gepubliceerd in 2017Artigo -
5
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis door Sophie Nambot, Julien Thévenon, Paul Kuentz, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Anne‐Laure Mosca‐Boidron, Alice Masurel‐Paulet, Daphné Lehalle, Nolwenn Jean‐Marçais, Mathilde Lefebvre, P. Vabres, Salima El Chehadeh-Djebbar, Christophe Philippe, Frédéric Tran Mau‐Them, Judith St‐Onge, Thibaud Jouan, Martin Chevarin, Charlotte Pöe, Virginie Carmignac, Antonio Vitobello, Patrick Callier, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet
Gepubliceerd in 2017Artigo -
6
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life door Julien Thévenon, Mathieu Milh, François Feillet, Judith St‐Onge, Yannis Duffourd, Clara Jugé, Agathe Roubertie, Delphine Héron, Cyril Mignot, Emmanuel Raffo, Bertrand Isidor, Sandra Wahlen, Damien Sanlaville, Nathalie Villeneuve, Véronique Darmency‐Stamboul, Annick Toutain, Mathilde Lefebvre, Mondher Chouchane, Frédéric Huet, Arnaud Lafon, Anne de Saint Martin, Gaëtan Lesca, Salima El Chehadeh, Christel Thauvin‐Robinet, Alice Masurel‐Paulet, Sylvie Odent, Laurent Villard, Christophe Philippe, Laurence Faivre, Jean‐Baptiste Rivière
Gepubliceerd in 2014Artigo -
7
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans door Thuy-Linh Le, Louise Galmiche, J Levý, Pim Suwannarat, Debby M.E.I. Hellebrekers, Khomgrit Morarach, Franck Boismoreau, Tom E. J. Theunissen, Mathilde Lefebvre, Anna Pelet, Jéléna Martinovic, A. Gélot, Fabien Guimiot, Amanda Calleroz, Cyril Gitiaux, Marie Hully, Olivier Goulet, Christophe Chardot, Séverine Drunat, Yline Capri, Christine Bôle‐Feysot, Patrick Nitschké, Sandra Whalen, L. Mouthon, Holly E. Babcock, Robert M.W. Hofstra, Irenaeus F.M. de Coo, Anne‐Claude Tabet, Thierry Jo Molina, Boris Keren, Alice Brooks, Hubert J.M. Smeets, Ulrika Marklund, Christopher T. Gordon, Stanislas Lyonnet, Jeanne Amiel, Nadège Bondurand
Gepubliceerd in 2021Artigo -
8
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation door Solveig Heide, Myrtille Spentchian, Stéphanie Valence, Julien Buratti, Corinne Mach, Élodie Lejeune, Valérie Olin, Marta Massimello, Daphné Lehalle, L. Mouthon, Sandra Whalen, Anne Faudet, Cyril Mignot, Cathérine Garel, Éléonore Blondiaux, Mathilde Lefebvre, Geneviève Quenum-Miraillet, Sandra Chantot‐Bastaraud, Mathieu Milh, Florence Bretelle, Vincent des Portes, Laurent Guibaud, Audrey Putoux, V. Tsatsaris, Marta Spodenkiewic, Valérie Layet, Rodolphe Dard, Laurent Mandelbrot, Agnès Guët, Sébastien Moutton, Magali Gorce, Mathilde Nizon, Marie Vincent, Claire Bénéteau, Marie-Amélie Rocchisanni, Alexandra Benachi, Julien Saada, Tania Attié‐Bitach, Lucie Guilbaud, P Maurice, Stéphanie Friszer, Jean‐Marie Jouannic, Thierry Billette de Villemeur, Marie‐Laure Moutard, Boris Keren, Delphine Héron
Gepubliceerd in 2020Artigo -
9
Identification of novel candidate disease genes from de novo exonic copy number variants door Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Gepubliceerd in 2017Artigo -
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants door Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin–Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan
Gepubliceerd in 2018Artigo -
11
Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features door Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh
Gepubliceerd in 2018Artigo
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