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A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies by Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean-Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler
Published 2021-04-01
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The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism by David J. Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Graeme C. Black, Benoît Arveiler, Panagiotis I. Sergouniotis
Published 2024-09-01
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Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes by Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska
Published 2020-09-01
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