Hasil Pencarian - Kevin Cassinari

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  1. 1
    When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

    When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20 oleh Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin

    Diterbitkan 2021-05-01
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  2. 2
    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 oleh 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

    Diterbitkan 2024-03-01
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  3. 3
    Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

    Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants oleh Florent Marguet, Myriam Vezain, Pascale Marcorelles, Séverine Audebert-Bellanger, Kévin Cassinari, Nathalie Drouot, Pascal Chambon, Bruno J. Gonzalez, Arie Horowitz, Annie Laquerriere, Pascale Saugier-Veber

    Diterbitkan 2021-06-01
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  4. 4
    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 oleh 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

    Diterbitkan 2020-04-01
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  5. 5
    Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

    Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use oleh Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion

    Diterbitkan 2020-02-01
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  6. 6
    A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics

    A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics oleh Gaël Nicolas, Myriam Sévigny, François Lecoquierre, Florent Marguet, Andréanne Deschênes, Maria Carment del Pelaez, Sébastien Feuillette, Anaïs Audebrand, Magalie Lecourtois, Stéphane Rousseau, Anne-Claire Richard, Kévin Cassinari, Vincent Deramecourt, Charles Duyckaerts, Anne Boland, Jean-François Deleuze, Vincent Meyer, Jordi Clarimon Echavarria, Ellen Gelpi, Haruhiko Akiyama, Masato Hasegawa, Ito Kawakami, Tsz H. Wong, Jeroen G. J. Van Rooij, John C. Van Swieten, Dominique Campion, Paul A. Dutchak, David Wallon, Flavie Lavoie-Cardinal, Annie Laquerrière, Anne Rovelet-Lecrux, Chantelle F. Sephton

    Diterbitkan 2022-02-01
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  7. 7
    Phenotype and imaging features associated with APP duplications

    Phenotype and imaging features associated with APP duplications oleh 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

    Diterbitkan 2023-05-01
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