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  1. 1
    Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

    Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing by François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas

    Published 2024-03-01
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  2. 2
    Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants

    Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants by Kévin Cassinari, Anne Rovelet-Lecrux, Céline Derambure, Myriam Vezain, Sophie Coutant, Anne-Claire Richard, Nathalie Drouot, Juliette Coursimault, Gabriella Vera, Alice Goldenberg, Pascale Saugier-Veber, Camille Charbonnier, Gaël Nicolas

    Published 2025-05-01
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  3. 3
    Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma

    Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma by Maxime Fontanilles, Florent Marguet, Philippe Ruminy, Carole Basset, Adrien Noel, Ludivine Beaussire, Mathieu Viennot, Pierre-Julien Viailly, Kevin Cassinari, Pascal Chambon, Doriane Richard, Cristina Alexandru, Isabelle Tennevet, Olivier Langlois, Frédéric Di Fiore, Annie Laquerrière, Florian Clatot, Nasrin Sarafan-Vasseur

    Published 2020-04-01
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  4. 4
    Phenotype and imaging features associated with APP duplications

    Phenotype and imaging features associated with APP duplications by Lou Grangeon, Camille Charbonnier, Aline Zarea, Stephane Rousseau, Anne Rovelet-Lecrux, David Bendetowicz, Marion Lemaitre, Cécile Malrain, Muriel Quillard-Muraine, Kevin Cassinari, David Maltete, Jeremie Pariente, Olivier Moreaud, Eloi Magnin, Benjamin Cretin, Marie-Anne Mackowiak, Adeline Rollin Sillaire, Martine Vercelletto, Elsa Dionet, Olivier Felician, Pauline Rod-Olivieri, Catherine Thomas-Antérion, Gaelle Godeneche, Mathilde Sauvée, Leslie Cartz-Piver, Isabelle Le Ber, Valérie Chauvire, Therèse Jonveaux, Anna-Chloé Balageas, Annie Laquerriere, Charles Duyckaerts, Anne Vital, Andre Maues de Paula, David Meyronet, Lucie Guyant-Marechal, Didier Hannequin, Elisabeth Tournier-Lasserve, Dominique Campion, CNR-MAJ collaborators, Gaël Nicolas, David Wallon

    Published 2023-05-01
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