Risultati della ricerca - Marie‐Pierre Moizard

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  1. 1
    Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening

    Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening di Marie‐Pierre Moizard, Annick Toutain, Delphine Fournier, Françoise Berret, Martine Raynaud, C. Billard, Christian Andrés, Claude Moraine

    Pubblicazione 2000
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  2. 2
    X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

    X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family di Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot, Romuald Blanc, Albert David, Marie‐Pierre Moizard, Martine Raynaud, Nathalie Ronce, Éric Lemonnier, Patrick Calvas, Béatrice Laudier, Jamel Chelly, Jean‐Pierre Fryns, Hans‐Hilger Ropers, Ben C.J. Hamel, Christian Andrés, Catherine Barthélémy, Claude Moraine, Sylvain Briault

    Pubblicazione 2004
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  3. 3
    Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

    Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase di Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon‐Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Éric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean‐Claude Kaplan, Jamel Chelly, Mireille Claustres

    Pubblicazione 2009
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  4. 4
    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium di Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanna G.M. Frints, Guy Froyen, Jean‐Pierre Fryns, Martine Raynaud, Marie‐Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, L. Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gécz, Andreas W. Kuß, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans‐Hilger Ropers, Ben C.J. Hamel

    Pubblicazione 2007
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