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Prenatal Diagnosis
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October 4, 2025
Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification
Mario Abaji, Laurent Nasca, Marie-Pierre Audrezet, et al.
Reproductive Biomedicine Online
|
June 29, 2025
Preconception carrier screening among assisted reproduction patients: insights from a monocentric survey in France
Mario Abaji, Arnold Munnich, Catherine Racowsky, et al.
Journal of Medical Genetics
|
February 27, 2023
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Mario Abaji, Cécile Mignon-Ravix, Svetlana Gorokhova, et al.
Genes
|
July 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, et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology
|
May 19, 2025
Improved diagnosis of glioblastoma, IDH-wildtype, metastasis through molecular and DNA methylation profiling: Two case reports
Alexandre Bertucci, Elise Kaspi, Marylin Barrie, et al.
Aging Cell
|
October 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, et al.
JAMA Pediatrics
|
January 26, 2026
Infant Outcomes, Risk Factors, and Diagnostic Yield After a Brief Resolved Unexplained Event: A Systematic Review and Meta-Analysis
Nassr Nama, Stephanie Liebert, Mario Abaji, et al.
Genes
|
June 24, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, et al.
American Journal of Medical Genetics. Part A
|
December 27, 2019
Growth charts in Kabuki syndrome 1
Valentin Ruault, Carole Corsini, Claire Duflos, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Prenatal Diagnosis
|
October 4, 2025
Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification
Mario Abaji, Laurent Nasca, Marie-Pierre Audrezet, et al.
Reproductive Biomedicine Online
|
June 29, 2025
Preconception carrier screening among assisted reproduction patients: insights from a monocentric survey in France
Mario Abaji, Arnold Munnich, Catherine Racowsky, et al.
Journal of Medical Genetics
|
February 27, 2023
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Mario Abaji, Cécile Mignon-Ravix, Svetlana Gorokhova, et al.
Genes
|
July 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, et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology
|
May 19, 2025
Improved diagnosis of glioblastoma, IDH-wildtype, metastasis through molecular and DNA methylation profiling: Two case reports
Alexandre Bertucci, Elise Kaspi, Marylin Barrie, et al.
Aging Cell
|
October 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, et al.
JAMA Pediatrics
|
January 26, 2026
Infant Outcomes, Risk Factors, and Diagnostic Yield After a Brief Resolved Unexplained Event: A Systematic Review and Meta-Analysis
Nassr Nama, Stephanie Liebert, Mario Abaji, et al.
Genes
|
June 24, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, et al.
American Journal of Medical Genetics. Part A
|
December 27, 2019
Growth charts in Kabuki syndrome 1
Valentin Ruault, Carole Corsini, Claire Duflos, et al.
Page
of 1