Mario Abaji
6PUBLICATIONS
21CO-AUTHORS
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Publications (6)
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|Mar 20, 2026
First Identification of a Heterozygous RNU4-2 and RNU4-1 Deletion Associated With Fetal Urogenital and Anorectal Malformations.Mario Abaji, Bénédicte Gerard, Laurent Nasca
|Oct 31, 2025
miR-140-5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson-Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway.Léa Toury, Diane Frankel, Sara Nael
|Oct 04, 2025
Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification.Mario Abaji, Laurent Nasca, Marie-Pierre Audrezet
|Feb 27, 2023
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.Mario Abaji, Cécile Mignon-Ravix, Svetlana Gorokhova
|Jul 27, 2022
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva
|Jun 24, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji
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Frequent Collaborators
2 joint publications
Marc Bartoli
1 joint publications
Yves Mathieu
1 joint publications
Claudia Castiglioni
1 joint publications
Jorge Díaz
1 joint publications
Ricardo Hughes
1 joint publications
Ignacio Acosta
1 joint publications
J Andoni Urtizberea
1 joint publications
Pablo Caviedes
1 joint publications
Maude Grelet
1 joint publications
Florence Riccardi
