Showing 1 - 7 results of 7 for search 'Michel Goossens', query time: 0.03s
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Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect by Claude Préhu, Kamran Moradkhani, Jean Riou, Michel Bahuau, Pierre Launay, Natacha Martin, Henri Wajcman, Michel Goossens, Frédéric Galactéros
Published 2009-11-01
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A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene by Maha Al-Sheikh, Elodie Mazurier, Betty Gardie, Nicole Casadevall, Frédéric Galactéros, Michel Goossens, Henri Wajcman, Claude Préhu, Valérie Ugo
Published 2008-07-01
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COMMD1-mediated ubiquitination regulates CFTR trafficking. by Loïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, Nicole Arous, Alix de Becdelièvre, Abdel Aissat, Agathe Tarze, Michel Goossens, Pascale Fanen
Published 2011-01-01
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Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome by Guillaume Bassez, Olivier J.A Camand, Valère Cacheux, Alexandra Kobetz, Florence Dastot-Le Moal, Dominique Marchant, Martin Catala, Marc Abitbol, Michel Goossens
Published 2004-03-01
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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C by 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
Published 2021-11-01
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Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. by 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
Published 2010-10-01
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