Found: 2

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  • Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

    Published in:
    2016
    By:
    • Calmels, Nadège;
    • Greff, Géraldine;
    • Obringer, Cathy;
    • Kempf, Nadine;
    • Gasnier, Claire;
    • Tarabeux, Julien;
    • Miguet, Marguerite;
    • Baujat, Geneviève;
    • Bessis, Didier;
    • Bretones, Patricia;
    • Cavau, Anne;
    • Digeon, Béatrice;
    • Doco-Fenzy, Martine;
    • Doray, Bérénice;
    • Feillet, François;
    • Gardeazabal, Jesus;
    • Gener, Blanca;
    • Julia, Sophie;
    • Llano-Rivas, Isabel;
    • Mazur, Artur
    Publication type:
    journal article

  • Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
    By:
    • Mignot, Cyril;
    • Apartis, Emmanuelle;
    • Durr, Alexandra;
    • Lourenço, Charles Marques;
    • Charles, Perrine;
    • Devos, David;
    • Moreau, Caroline;
    • Lonlay, Pascale de;
    • Drouot, Nathalie;
    • Burglen, Lydie;
    • Kempf, Nadine;
    • Nourisson, Elsa;
    • Chantot-Bastaraud, Sandra;
    • Lebre, Anne-Sophie;
    • Rio, Marlène;
    • Chaix, Yves;
    • Bieth, Eric;
    • Roze, Emmanuel;
    • Bonnet, Isabelle;
    • Canaple, Sandrine
    Publication type:
    Article