Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 5

Results: 12
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    Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.

    Published in:
    Human Mutation, 2015, v. 36, n. 5, p. 548, doi. 10.1002/humu.22776
    By:
    • Nurden, Alan T.;
    • Pillois, Xavier;
    • Fiore, Mathieu;
    • Alessi, Marie‐Christine;
    • Bonduel, Mariana;
    • Dreyfus, Marie;
    • Goudemand, Jenny;
    • Gruel, Yves;
    • Benabdallah‐Guerida, Schéhérazade;
    • Latger‐Cannard, Véronique;
    • Négrier, Claude;
    • Nugent, Diane;
    • Oiron, Roseline d;
    • Rand, Margaret L.;
    • Sié, Pierre;
    • Trossaert, Marc;
    • Alberio, Lorenzo;
    • Martins, Nathalie;
    • Sirvain‐Trukniewicz, Peggy;
    • Couloux, Arnaud
    Publication type:
    Article
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    Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

    Published in:
    Human Mutation, 2015, v. 36, n. 5, p. 562, doi. 10.1002/humu.22784
    By:
    • Vetro, Annalisa;
    • Iascone, Maria;
    • Limongelli, Ivan;
    • Ameziane, Najim;
    • Gana, Simone;
    • Mina, Erika Della;
    • Giussani, Ursula;
    • Ciccone, Roberto;
    • Forlino, Antonella;
    • Pezzoli, Laura;
    • Rooimans, Martin A.;
    • Essen, Antoni J.;
    • Messa, Jole;
    • Rizzuti, Tommaso;
    • Bianchi, Paolo;
    • Dorsman, Josephine;
    • Winter, Johan P.;
    • Lalatta, Faustina;
    • Zuffardi, Orsetta
    Publication type:
    Article
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    Contents.

    Published in:
    2015
    Publication type:
    Other
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    Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.

    Published in:
    Human Mutation, 2015, v. 36, n. 5, p. 569, doi. 10.1002/humu.22789
    By:
    • van der Westhuizen, Francois H.;
    • Sinxadi, Phumla Z.;
    • Dandara, Collet;
    • Smuts, Izelle;
    • Riordan, Gillian;
    • Meldau, Surita;
    • Malik, Afshan N.;
    • Sweeney, Mary G.;
    • Tsai, Yuchia;
    • Towers, Gordon W.;
    • Louw, Roan;
    • Gorman, Grainne S.;
    • Payne, Brendan A.;
    • Soodyall, Himla;
    • Pepper, Michael S.;
    • Elson, Joanna L.
    Publication type:
    Article
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