Researcher
Benoît Arveiler
University of Bordeaux and Univ Hospital
Statistics
7 papers found
All papers authored by Benoît Arveiler
Refreshing results…
2021
Angèle Tingaud-Sequeira 
,
Aurélien Trimouille ,
Manju Salaria,
Rachel Stapleton,
Stéphane Claverol,
Claudio Plaisant ,
Marc Bonneu ,
Estelle Lopez,
Benoit Arveiler ,
Didier Lacombe ,
Caroline Rooryck
,
Aurélien Trimouille ,
Manju Salaria,
Rachel Stapleton,
Stéphane Claverol,
Claudio Plaisant ,
Marc Bonneu ,
Estelle Lopez,
Benoit Arveiler ,
Didier Lacombe ,
Caroline Rooryck
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
Download from link.springer.com
2020
Perrine Pennamen ,
Angèle Tingaud‐Sequeira,
Vincent Michaud ,
Fanny Morice‐Picard ,
Claudio Plaisant,
Catherine Vincent‐Delorme,
Fabienne Giuliano,
Saba Azarnoush,
Yline Capri,
Carolina Marçon ,
Didier Lacombe,
Eulalie Lasseaux,
Benoît Arveiler
,
Angèle Tingaud‐Sequeira,
Vincent Michaud ,
Fanny Morice‐Picard ,
Claudio Plaisant,
Catherine Vincent‐Delorme,
Fabienne Giuliano,
Saba Azarnoush,
Yline Capri,
Carolina Marçon ,
Didier Lacombe,
Eulalie Lasseaux,
Benoît Arveiler
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky‐Pudlak Syndrome
Download from api.wiley.com
2018
Aurélien Trimouille,
Angèle Tingaud-Sequeira,
Perrine Pennamen ,
Gwenaelle André,
Julie Bouron,
Cécile Boucher,
Patricia Fergelot,
Didier Lacombe,
Benoit Arveiler ,
Caroline Rooryck
Download from www.nature.com
,
Gwenaelle André,
Julie Bouron,
Cécile Boucher,
Patricia Fergelot,
Didier Lacombe,
Benoit Arveiler ,
Caroline Rooryck
Download from www.nature.com
2017
Aurélien Trimouille,
Nada Houcinat,
Marie-Laure Vuillaume,
Patricia Fergelot,
Cécile Boucher,
Jérôme Toutain,
Cédric Le Caignec,
Marie Vincent,
Mathilde Nizon,
Joris Andrieux,
Clémence Vanlerberghe ,
Bruno Delobel,
Bénédicte Duban,
Sahar Mansour ,
Emma Baple
and 12 other authors
Download from www.nature.com
,
Bruno Delobel,
Bénédicte Duban,
Sahar Mansour ,
Emma Baple
and 12 other authors
Download from www.nature.com
2016
Fanny Morice-Picard,
Giovanni Benard,
Hamid R. Rezvani,
Eulalie Lasseaux,
Delphine Simon,
Sébastien Moutton,
Caroline Rooryck,
Didier Lacombe ,
Clarisse Baumann,
Benoit Arveiler
,
Clarisse Baumann,
Benoit Arveiler
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype
Download from www.nature.comMissing publications? Search for publications with a matching author name.