Hasil Pencarian - Muriel Giansily-Blaizot

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  1. 1
    Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype

    Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype oleh Muriel Giansily-Blaizot, Séverine Cunat, Grégory Moulis, Jean-François Schved, Patricia Aguilar-Martinez

    Diterbitkan 2013-04-01
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  2. 2
    Critical evaluation of kinetic schemes for coagulation.

    Critical evaluation of kinetic schemes for coagulation. oleh Alexandre Ranc, Salome Bru, Simon Mendez, Muriel Giansily-Blaizot, Franck Nicoud, Rodrigo Méndez Rojano

    Diterbitkan 2023-01-01
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  3. 3
    HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload

    HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload oleh Patricia Aguilar-Martinez, Muriel Giansily-Blaizot, Michael Bismuth, Séverine Cunat, Hélène Igual, Jean François Schved

    Diterbitkan 2010-04-01
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  4. 4
    Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

    Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency oleh Paolo Ferraresi, Dario Balestra, Caroline Guittard, Delphine Buthiau, Brigitte Pan-Petesh, Iva Maestri, Roula Farah, Mirko Pinotti, Muriel Giansily-Blaizot

    Diterbitkan 2020-03-01
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  5. 5
    Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency

    Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency oleh Alessio Branchini, Lara Rizzotto, Guglielmo Mariani, Mariasanta Napolitano, Mario Lapecorella, Muriel Giansily-Blaizot, Rosella Mari, Alessandro Canella, Mirko Pinotti, Francesco Bernardi

    Diterbitkan 2012-05-01
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  6. 6
    P1499: GENETIC FACTORS OF IRON OVERLOAD IN HEREDITARY SPHEROCYTOSIS

    P1499: GENETIC FACTORS OF IRON OVERLOAD IN HEREDITARY SPHEROCYTOSIS oleh Lucie Donaty, Muriel Giansily Blaizot, Severine Cunat, Vincent Azoury, Corinne Favier, Vanessa Debant, Fabienne Danton, Robert Navarro, Perrine Mahé, Patricia Aguilar Martinez

    Diterbitkan 2023-08-01
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  7. 7
    APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis

    APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis oleh Simon Stritt, Paquita Nurden, Alan T. Nurden, Jean-François Schved, Jean-Claude Bordet, Maguelonne Roux, Marie-Christine Alessi, David-Alexandre Trégouët, Taija Mäkinen, Muriel Giansily-Blaizot

    Diterbitkan 2022-05-01
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  8. 8
    Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)

    Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER) oleh Mariasanta Napolitano, Muriel Giansily-Blaizot, Alberto Dolce, Jean F. Schved, Guenter Auerswald, Jørgen Ingerslev, Jens Bjerre, Carmen Altisent, Pimlak Charoenkwan, Lisa Michaels, Ampaiwan Chuansumrit, Giovanni Di Minno, Ümran Caliskan, Guglielmo Mariani

    Diterbitkan 2013-04-01
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  9. 9
    The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance

    The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance oleh Patricia Aguilar-Martinez, Michael Bismuth, François Blanc, Pierre Blanc, Severine Cunat, Olivier Dereure, Pierre Dujols, Muriel Giansily-Blaizot, Christian Jorgensen, Amadou Konate, Dominique Larrey, Alain Le Quellec, Thibault Mura, Isabelle Raingeard, Jeanne Ramos, Eric Renard, Florence Rousseau, Jean-François Schved, Marie-Christine Picot

    Diterbitkan 2010-04-01
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