Resultats de la cerca - Fiore, Mathieu

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

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

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

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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome. per 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

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

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

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