Hasil Pencarian - Patrick Calvas

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  1. 1
    Quality of DNA extracted from mouthwashes.

    Quality of DNA extracted from mouthwashes. oleh Tetyana Zayats, Terri L Young, David A Mackey, François Malecaze, Patrick Calvas, Jeremy A Guggenheim

    Diterbitkan 2009-07-01
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  2. 2
    Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital Aniridia

    Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital Aniridia oleh Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton

    Diterbitkan 2023-01-01
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  3. 3
    Structural Variant Disrupting the Expression of the Remote <i>FOXC1</i> Gene in a Patient with Syndromic Complex Microphthalmia

    Structural Variant Disrupting the Expression of the Remote <i>FOXC1</i> Gene in a Patient with Syndromic Complex Microphthalmia oleh Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, Jean-Michel Rozet, Jacmine Pechmeja, Julien Noero, Véronique Gaston, Isabelle Bailleul-Forestier, Patrick Calvas, Nicolas Chassaing

    Diterbitkan 2024-02-01
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  4. 4
    Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

    Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders oleh Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli

    Diterbitkan 2019-12-01
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  5. 5
    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis oleh Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz

    Diterbitkan 2018-01-01
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