Kết quả tìm kiếm - Fiore, Mathieu
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Clinical utility gene card for: Glanzmann thrombasthenia Bằng Fiore, Mathieu, Nurden, Alan T, Nurden, Paquita, Seligsohn, Uri
Được phát hành 2012Text -
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Clinical utility gene card for: Glanzmann thrombasthenia Bằng Fiore, Mathieu, Nurden, Alan T, Nurden, Paquita, Seligsohn, Uri
Được phát hành 2012Text -
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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome. Bằng 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
Được phát hành 2020Text -
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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34(+) progenitors Bằng 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
Được phát hành 2017Text -
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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction Bằng 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.
Được phát hành 2021Text