Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Julien Thevenon"'
Autor:
Giulia Barcia, Laurence Hubert, Emily Fassi, Julien Thevenon, Laurence Faivre, Philippe Lory, Daniel Medina-Cano, Pierre Blanc, Nathalie Boddaert, Nami Altin, Karine Siquier-Pernet, Marlène Rio, Céline Vidal, Jean Chemin, Sylvain Hanein, Holly H. Zimmerman, Marwan Shinawi, Patrick Nitschke, Vincent Cantagrel, Cécile Fourage, Nadia Bahi-Buisson, Christine Bole-Feysot, Jeanne Amiel, Ali Ahmad, Arnold Munnich, Michael Nicouleau, Stanislas Lyonnet, Laurence Colleaux, Isabelle Desguerre
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Brain-A Journal of Neurology, 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
IF 10.848; International audience; Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset cerebellar atrophies are classically
Autor:
Bruno Vergès, Albert Beckers, Brigitte Delemer, Vincent Rohmer, Arnaud Murat, Jean-Marc Kuhn, Philippe Ruszniewski, Christine Binquet, Julien Thevenon, Philippe Caron, Georges Weryha, Michel Rodier, Sophie Giraud, F. Archambeaud, I. Guilhem, Morgane Le Bras, Philippe Chanson, Béatrice Parfait, Jean-Louis Sadoul, Lionel Groussin, Patricia Niccoli, Catherine Cardot-Bauters, Philippe Bouchard, Eric Baudin, Françoise Duron, Michel Renard, Hélène Bihan, Véronique Kerlan, P. Lecomte, Catherine Lombard-Bohas, Abderrahmane Bourredjem, Anne Barlier, Emilie Castermans, Françoise Borson-Chazot, Bernard Goichot, Olivier Chabre, Antoine Tabarin, Alain Calender, Laurence Faivre, Hélène Du Boullay, Pierre Goudet, Eric Clauser, Alfred Penfornis, Marie-Françoise Odou
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (10), pp.1940-8. 〈10.1093/hmg/ddt039〉
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (10), pp.1940-8. ⟨10.1093/hmg/ddt039⟩
Human Molecular Genetics, 2013, 22 (10), pp.1940-8. ⟨10.1093/hmg/ddt039⟩
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (10), pp.1940-8. 〈10.1093/hmg/ddt039〉
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (10), pp.1940-8. ⟨10.1093/hmg/ddt039⟩
Human Molecular Genetics, 2013, 22 (10), pp.1940-8. ⟨10.1093/hmg/ddt039⟩
International audience; Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype-phenotype stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5167372d5a18305e4a429ae380df4076
http://hal.univ-brest.fr/hal-00935869
http://hal.univ-brest.fr/hal-00935869
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