Concepedia
Statistics
Publications
3
Citations
111
H-Index
Active since
2015
Affiliations
Inserm(Current)
Hôpital de la Timone
Aix-Marseille Université
Centre National de la Recherche Scientifique
Hôpital d'Enfants
Eugénie Dionnet is an author at Inserm specializing in muscular dystrophy, medical genetics, and genetics.
Publications per year
2015–2020
Identification of Variants in the 4q35 Gene<i>FAT1</i>in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype
Francesca Puppo, Eugénie Dionnet, Marie-Cécile Gaillard et al. · Human Mutation · 2015 · 48 citations
Life Sciences, Genetics, Molecular Genetics +13
Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells
Florian Barthélémy, Cédric M. Blouin, Nicolas Wein et al. · Journal of Neuromuscular Diseases · 2015 · 44 citations · Full text
Medicine, Cell Biology, Molecular Biology +12
Splicing impact of deep exonic missense variants in <i>CAPN3</i> explored systematically by minigene functional assay
Eugénie Dionnet, Aurélia Defour, Nathalie Da Silva et al. · Human Mutation · 2020 · 19 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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