Mario Abaji

Years Active: 2022-2023
Publications (10 Years): 3

This page only lists publications with an associated author ORCID identifier.

Publications

Mario Abaji, Cécile Mignon-Ravix, Svetlana Gorokhova, Pierre Cacciagli, Jérémie Mortreux, Florence Molinari, Brigitte Chabrol, Sabine Sigaudy, Laurent Villard, Florence Riccardi
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype. Journal of medical genetics (2023)
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz-Jara, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Javier Acosta, J Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A Bevilacqua
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes 13 (6) (2022)
Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa, Maude Grelet, Chantal Missirian, Sabine Sigaudy, Nicole Philip, France Leturcq, Nicolas Lévy, Martin Krahn, Marc Bartoli
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49. Genes 13 (7) (2022)

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