Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Emmanuelle Ginglinger"'
Autor:
Linda Akloul, Véronique David, Clarisse Baumann, Sylvie Odent, Laurent Pasquier, Christèle Dubourg, Houda Hamdi-Rozé, Daniel Amram, Charlotte Mouden, Pierre Sarda, Sophie Naudion, Amélie Poidvin, Marie Gonzales, Nicolas Chassaing, Valérie Dupé, Fabienne Prieur, Joelle Roume, Marie de Tayrac, Benmansour Abdelmajid, Annie Levy-Mozziconacci, Christine Coubes, Wilfrid Carré, Annick Toutain, Laurence Faivre-Olivier, Emmanuelle Ginglinger, Sally-Ann Lynch
Publikováno v:
Human Mutation. 37:1329-1339
Holoprosencephaly (HPE) is the most common congenital cerebral malformation in humans, characterized by impaired forebrain cleavage and midline facial anomalies. It presents a high heterogeneity, both in clinics and genetics. We have developed a nove
Autor:
Axel Bohring, Jean-Baptiste Rivière, Joanna Kennedy, Giampaolo Garani, Margo Whiteford, Stefania Bigoni, Bregje W.M. van Bon, Elisa Ballardini, Laurence Faivre, Emmanuelle Ginglinger, Han G. Brunner, Matt Wherlock, Alexander Hoischen, Ruth Newbury-Ecob, Vincent Meyer, Robert Olaso, Geoff Woodward, Rocio Acuna-Hidalgo, Ange-Line Bruel, Judith St-Onge, Maggie Williams, Julien Thevenon, Christel Thauvin-Robinet, Giulia Parmeggiani, Jean-François Deleuze, Ddd Study, Chris C. Buxton, Alessandra Ferlini, Mark Greenslade, Anne Boland
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Background Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations of ASXL1. However, several typical patients with BOS have no m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9616db17c74253ed460103a96e1c8340
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676