Risultati della ricerca - Mathilde Doyard

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  1. 1
    Decreased Bone Formation Explains Osteoporosis in a Genetic Mouse Model of Hemochromatosiss

    Decreased Bone Formation Explains Osteoporosis in a Genetic Mouse Model of Hemochromatosiss di Mathilde Doyard, Daniel Chappard, Patricia Leroyer, Marie‐Paule Roth, Olivier Loréal, Pascal Guggenbuhl

    Pubblicazione 2016
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  2. 2
    Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

    Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta di Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard, Caroline Michot, Pascale Chavassieux, Abdeslam Khairouni, Vicken Topouchian, Sophie Monnot, Eugénie Koumakis, Valérie Cormier‐Daire

    Pubblicazione 2020
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    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome di Séverine Bacrot, Mathilde Doyard, Céline Huber, Olivier Alibeu, Niklas Feldhahn, Daphné Lehalle, Didier Lacombe, Sandrine Marlin, Patrick Nitschké, Florence Petit, Marie‐Paule Vazquez, Arnold Münnich, Valérie Cormier‐Daire

    Pubblicazione 2014
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