Found: 3

Select item for more details and to access through your institution.

  • Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

    Published in:
    2017
    By:
    • Carapito, Raphael;
    • Konantz, Martina;
    • Paillard, Catherine;
    • Zhichao Miao;
    • Pichot, Angélique;
    • Leduc, Magalie S.;
    • Yaping Yang;
    • Bergstrom, Katie L.;
    • Mahoney, Donald H.;
    • Shardy, Deborah L.;
    • Alsaleh, Ghada;
    • Naegely, Lydie;
    • Kolmer, Aline;
    • Paul, Nicodème;
    • Hanauer, Antoine;
    • Rolli, Véronique;
    • Müller, Joëlle S.;
    • Alghisi, Elisa;
    • Sauteur, Loïc;
    • Macquin, Cécile
    Publication type:
    journal article

  • Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort.

    Published in:
    Science Translational Medicine, 2022, v. 14, n. 628, p. 1, doi. 10.1126/scitranslmed.abj7521
    By:
    • Carapito, Raphael;
    • Li, Richard;
    • Helms, Julie;
    • Carapito, Christine;
    • Gujja, Sharvari;
    • Rolli, Véronique;
    • Guimaraes, Raony;
    • Malagon-Lopez, Jose;
    • Spinnhirny, Perrine;
    • Lederle, Alexandre;
    • Mohseninia, Razieh;
    • Hirschler, Aurélie;
    • Muller, Leslie;
    • Bastard, Paul;
    • Gervais, Adrian;
    • Zhang, Qian;
    • Danion, François;
    • Ruch, Yvon;
    • Schenck, Maleka;
    • Collange, Olivier
    Publication type:
    Article

  • Lipolysis is altered in MHC class I zinc-α<sub>2</sub>-glycoprotein deficient mice

    Published in:
    FEBS Letters, 2007, v. 581, n. 3, p. 394, doi. 10.1016/j.febslet.2006.12.047
    By:
    • Rolli, Véronique;
    • Radosavljevic, Mirjana;
    • Astier, Valérie;
    • Macquin, Cécile;
    • Castan-Laurell, Isabelle;
    • Visentin, Virgile;
    • Guigné, Charlotte;
    • Carpéné, Christian;
    • Valet, Philippe;
    • Gilfillan, Susan;
    • Bahram, Seiamak
    Publication type:
    Article