Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Patrick Callier"'
Autor:
Arthur Sorlin, Antonio Vitobello, Benoit Daubail, Christel Thauvin-Robinet, Marie Hervieu-Bègue, Laurence Faivre, Agnès Fromont, Ange-Line Bruel, Frédéric Tran Mau-Them, Thibault Moreau, Julian Delanne, Guy-Victor Osseby, Quentin Thomas, Patrick Callier, Christophe Philippe, Sébastien Moutton, Maurice Giroud, Anne-Sophie Denommé-Pichon, Agnès Jacquin-Piques, Sophie Nambot, Yannis Duffourd, Philippine Garret, Y Béjot
Publikováno v:
Journal of the Neurological Sciences
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3329cef9705665a2779172bf299f6c60
https://hal.inrae.fr/hal-03463169
https://hal.inrae.fr/hal-03463169
Autor:
Jill A. Rosenfeld, Vijay Kumar, Alessandra Renieri, Alexandre Reymond, Charles E. Schwartz, Claire Beneteau, Emily Huber, Katrin Männik, Cédric Le Caignec, Anne Laure Mosca-Boidron, Aurora Currò, Teresa Mattina, Paolo Prontera, Corrado Romano, Damian Pazuchanics, Erik A. Sistermans, Dominique Martin-Coignard, Lucia Castiglia, Luana Mandarà, Kate Pope, Pawel Stankiewicz, Matthew Jensen, Mathilde Lefebvre, Anke Van Dijck, Laurence Faivre, Sau Wai Cheung, R. Frank Kooy, Sophie Blesson, Nathalie Marle, Marie Vincent, Bertrand Isidor, Marco Fichera, Emanuela Avola, Ornella Galesi, Joris Andrieux, Jean-Hubert Caberg, Cindy Skinner, Sandra Mercier, Małgorzata J.M. Nowaczyk, Mathilde Nizon, Susan Zeesman, David J. Amor, Els Voorhoeve, Santhosh Girirajan, Andrew Polyak, Maja Bucan, Boris Keren, Elizabeth McCready, Olivier Pichon, Francesca Mari, Ji-eun Yoon, Arjun Krishnan, Rachel L. Kember, Lucilla Pizzo, Charles Perrine, Patrick Callier
PurposeTo assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations.MethodsWe analyzed quantitative clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7fda6e715f1090b1e75d0d7cf2b7bf
Autor:
Frédéric Huet, Michèle Mathieu-Dramard, Martine Caron-Debarle, Jeanne Amiel, C. Fagour, Christel Thauvin-Robinet, Olivier Lascols, Jacqueline Capeau, Patrick Callier, Marie-Laure Nunes, Damien Picot, Jean-Baptiste Rivière, Bernard Le Luyer, Martine Laville, Judith St-Onge, Delphine Héron, Yves Reznik, Sylvie Odent, Laurence Faivre, Pierre Bitoun, Julien Thevenon, Martine Auclair, Virginie Carmignac, Jean-Michel Petit, Magali Avila, Martine Le Merrer, Laurence Duplomb, Corinne Vigouroux
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 93 (1), pp.141-149. ⟨10.1016/j.ajhg.2013.05.019⟩
American Journal of Human Genetics, 2013, 93 (1), pp.141-149. ⟨10.1016/j.ajhg.2013.05.019⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 93 (1), pp.141-149. 〈10.1016/j.ajhg.2013.05.019〉
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 93 (1), pp.141-149. ⟨10.1016/j.ajhg.2013.05.019⟩
American Journal of Human Genetics, 2013, 93 (1), pp.141-149. ⟨10.1016/j.ajhg.2013.05.019⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 93 (1), pp.141-149. 〈10.1016/j.ajhg.2013.05.019〉
International audience; Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4664912a7ac00fabcb153b6b52bdb6b3
https://hal.archives-ouvertes.fr/hal-01064045
https://hal.archives-ouvertes.fr/hal-01064045