Search Results - Fiore, Mathieu

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  1. 1
    Clinical utility gene card for: Glanzmann thrombasthenia

    Clinical utility gene card for: Glanzmann thrombasthenia by Fiore, Mathieu, Nurden, Alan T, Nurden, Paquita, Seligsohn, Uri

    Published 2012
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  2. 2
    Clinical utility gene card for: Glanzmann thrombasthenia

    Clinical utility gene card for: Glanzmann thrombasthenia by Fiore, Mathieu, Nurden, Alan T, Nurden, Paquita, Seligsohn, Uri

    Published 2012
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  3. 3
    Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families

    Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families by Fiore, Mathieu, Pillois, Xavier, Nurden, Paquita, Nurden, Alan T, Austerlitz, Frédéric

    Published 2011
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  4. 4
    BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome.

    BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome. by Pennamen, Perrine, Le, Linh, Tingaud-Sequeira, Angèle, Fiore, Mathieu, Bauters, Anne, Van Duong Béatrice, Nguyen, Coste, Valentine, Bordet, Jean-Claude, Plaisant, Claudio, Diallo, Modibo, Michaud, Vincent, Trimouille, Aurélien, Lacombe, Didier, Lasseaux, Eulalie, Delevoye, Cédric, Picard, Fanny Morice, Delobel, Bruno, Marks, Michael S., Arveiler, Benoit

    Published 2020
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  5. 5
    Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34(+) progenitors

    Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34(+) progenitors by Poggi, Marjorie, Canault, Matthias, Favier, Marie, Turro, Ernest, Saultier, Paul, Ghalloussi, Dorsaf, Baccini, Veronique, Vidal, Lea, Mezzapesa, Anna, Chelghoum, Nadjim, Mohand-Oumoussa, Badreddine, Falaise, Céline, Favier, Rémi, Ouwehand, Willem H., Fiore, Mathieu, Peiretti, Franck, Morange, Pierre Emmanuel, Saut, Noémie, Bernot, Denis, Greinacher, Andreas, BioResource, NIHR, Nurden, Alan T., Nurden, Paquita, Freson, Kathleen, Trégouët, David-Alexandre, Raslova, Hana, Alessi, Marie-Christine

    Published 2017
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  6. 6
    A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

    A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction by Ng, Bobby G., Sosicka, Paulina, Fenaille, François, Harroche, Annie, Vuillaumier-Barrot, Sandrine, Porterfield, Mindy, Xia, Zhi-Jie, Wagner, Shannon, Bamshad, Michael J., Vergnes-Boiteux, Marie-Christine, Cholet, Sophie, Dalton, Stephen, Dell, Anne, Dupré, Thierry, Fiore, Mathieu, Haslam, Stuart M., Huguenin, Yohann, Kumagai, Tadahiro, Kulik, Michael, McGoogan, Katherine, Michot, Caroline, Nickerson, Deborah A., Pascreau, Tiffany, Borgel, Delphine, Raymond, Kimiyo, Warad, Deepti, Flanagan-Steet, Heather, Steet, Richard, Tiemeyer, Michael, Seta, Nathalie, Bruneel, Arnaud, Freeze, Hudson H.

    Published 2021
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