First Identification of a Heterozygous RNU4‐2 and RNU4‐1 Deletion Associated With Fetal Urogenital and Anorectal Malformations
Mario Abaji, Bénédicte Gérard, Laurent Nasca, Radia Fritih et autres
0 citationsPrenatal Diagnosis
Mario Abaji
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
9Publications signalées
37Citations signalées
4Affiliations récentes
Institutions déclarées
Domaines associés
Muscle Physiology and DisordersCellular transport and secretionCardiomyopathy and Myosin StudiesNuclear Structure and FunctionGenetic Syndromes and Imprinting
Publications récentes
Infant Outcomes, Risk Factors, and Diagnostic Yield After a Brief Resolved Unexplained Event
Nassr Nama, S Liebert, Mario Abaji, Amy M. DeLaroche et autres
3 citationsArchives of Pediatrics and Adolescent Medicine
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, Mario Abaji et autres
1 citationAging Cell
Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification
Mario Abaji, Laurent Nasca, Marie‐Pierre Audrézet, Bénédicte Gérard et autres
0 citationsPrenatal Diagnosis
Improved diagnosis of glioblastoma, IDH-wildtype, metastasis through molecular and DNA methylation profiling: Two case reports
Alexandre Bertucci, Élise Kaspi, Marylin Barrie, Laurence Schenone et autres
0 citationsPathobiology
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Mario Abaji, Cécile Mignon‐Ravix, Svetlana Gorokhova, Pierre Cacciagli et autres
2 citationsJournal of Medical Genetics
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa et autres
7 citationsGenes
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
Mathieu Cérino, Patricio González‐Hormazábal, Mario Abaji, Sébastien Courrier et autres
8 citationsGenes
Growth charts in Kabuki syndrome 1
Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete et autres
16 citationsAmerican Journal of Medical Genetics Part A
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