Hasil Pencarian - Michel Goossens

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  1. 1
    Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

    Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. oleh Viviane Baral, Asma Chaoui, Yuli Watanabe, Michel Goossens, Tania Attie-Bitach, Sandrine Marlin, Veronique Pingault, Nadege Bondurand

    Diterbitkan 2012-01-01
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  2. 2
    Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect

    Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect oleh Claude Préhu, Kamran Moradkhani, Jean Riou, Michel Bahuau, Pierre Launay, Natacha Martin, Henri Wajcman, Michel Goossens, Frédéric Galactéros

    Diterbitkan 2009-11-01
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  3. 3
    A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

    A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene oleh Maha Al-Sheikh, Elodie Mazurier, Betty Gardie, Nicole Casadevall, Frédéric Galactéros, Michel Goossens, Henri Wajcman, Claude Préhu, Valérie Ugo

    Diterbitkan 2008-07-01
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  4. 4
    COMMD1-mediated ubiquitination regulates CFTR trafficking.

    COMMD1-mediated ubiquitination regulates CFTR trafficking. oleh Loïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, Nicole Arous, Alix de Becdelièvre, Abdel Aissat, Agathe Tarze, Michel Goossens, Pascale Fanen

    Diterbitkan 2011-01-01
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  5. 5
    Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome

    Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome oleh Guillaume Bassez, Olivier J.A Camand, Valère Cacheux, Alexandra Kobetz, Florence Dastot-Le Moal, Dominique Marchant, Martin Catala, Marc Abitbol, Michel Goossens

    Diterbitkan 2004-03-01
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  6. 6
    Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

    Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C oleh Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay

    Diterbitkan 2021-11-01
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  7. 7
    Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

    Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. oleh Alexandre Hinzpeter, Abdel Aissat, Elvira Sondo, Catherine Costa, Nicole Arous, Christine Gameiro, Natacha Martin, Agathe Tarze, Laurence Weiss, Alix de Becdelièvre, Bruno Costes, Michel Goossens, Luis J Galietta, Emmanuelle Girodon, Pascale Fanen

    Diterbitkan 2010-10-01
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