Benoît Arveiler - Dissemin

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All papers authored by Benoît Arveiler

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2021 Angèle Tingaud-Sequeira

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, Aurélien Trimouille

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, Manju Salaria, Rachel Stapleton, Stéphane Claverol, Claudio Plaisant

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, Estelle Lopez, Benoit Arveiler

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, Didier Lacombe

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, Caroline Rooryck

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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

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2020 Perrine Pennamen

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, Angèle Tingaud‐Sequeira, Vincent Michaud

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, Fanny Morice‐Picard

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, Claudio Plaisant, Catherine Vincent‐Delorme, Fabienne Giuliano, Saba Azarnoush, Yline Capri, Carolina Marçon

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, Didier Lacombe, Eulalie Lasseaux, Benoît Arveiler

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Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky‐Pudlak Syndrome

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2019 Vincent Michaud

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, Sabine Defoort-Dhellemmes, Isabelle Drumare

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, Perrine Pennamen

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, Claudio Plaisant, Eulalie Lasseaux, Benoit Arveiler

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Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism

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2018 Aurélien Trimouille, Angèle Tingaud-Sequeira, Perrine Pennamen

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, Gwenaelle André, Julie Bouron, Cécile Boucher, Patricia Fergelot, Didier Lacombe, Benoit Arveiler

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, Caroline Rooryck

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

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Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud

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, Perrine Pennamen

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, Aurelien Trimouille, Laetitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice-Picard

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, Benoît Arveiler

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Molecular characterization of a series of 990 index patients with albinism

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2016 Fanny Morice-Picard, Giovanni Benard, Hamid R. Rezvani, Eulalie Lasseaux, Delphine Simon, Sébastien Moutton, Caroline Rooryck, Didier Lacombe

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, Clarisse Baumann, Benoit Arveiler

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Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

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