Works matching IS 17501172 AND DT 2014 AND VI 9

Results: 435
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    Reviewer acknowledgement 2014.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 10, doi. 10.1186/1750-1172-9-10
    By:
    • Aymé, Ségolène
    Publication type:
    Article
    3

    A methodological framework for drug development in rare diseases.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 164, doi. 10.1186/s13023-014-0164-y
    By:
    • Nony, Patrice;
    • Kurbatova, Polina;
    • Bajard, Agathe;
    • Malik, Salma;
    • Castellan, Charlotte;
    • Chabaud, Sylvie;
    • Volpert, Vitaly;
    • Eymard, Nathalie;
    • Kassai, Behrouz;
    • Cornu, Catherine
    Publication type:
    Article
    4

    OSSE – open source registry software solution

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O9, doi. 10.1186/1750-1172-9-S1-O9
    By:
    • Muscholl, Marita;
    • Lablans, Martin;
    • Wagner, Thomas OF;
    • Ückert, Frank
    Publication type:
    Article
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    Severity score for hereditary hemorrhagic telangiectasia.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0188-3
    By:
    • Latino, Giuseppe A.;
    • Kim, Helen;
    • Nelson, Jeffrey;
    • Pawlikowska, Ludmila;
    • Young, William;
    • Faughnan, Marie E.
    Publication type:
    Article
    7

    Use of animal models for exome prioritization of rare disease genes

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O19
    By:
    • Smedley, Damian;
    • Kohler, Sebastian;
    • Bone, William;
    • Oellrich, Anika;
    • Jacobsen, Jules;
    • Genetics Project, Sanger Mouse;
    • Kai Wang;
    • Mungall, Chris;
    • Washington, Nicole;
    • Bauer, Sebastian;
    • Seelow, Dominic;
    • Krawitz, Peter;
    • Boerkel, Cornelius;
    • Gilissen, Christian;
    • Haendel, Melissa;
    • Lewis, Suzanna E;
    • Robinson, Peter N
    Publication type:
    Article
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    National rare diseases registry in Spain: pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR)

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-P5
    By:
    • Alonso, Verónica;
    • Abaitua, Ignacio;
    • Zurriaga, Óscar;
    • Astray, Jenaro;
    • Errezola, Manuel;
    • Aldana-Espinal, Josefa M;
    • Margolles, Mario J;
    • Jiménez, Josep;
    • Palomar, Joaquín A;
    • Santana, Milagrosa;
    • Ramalle-Gomarra, Enrique;
    • Ramos, Julián M;
    • Arribas, Federico E;
    • Álamo, Rufino;
    • Gutiérrez-Ávila, Gonzalo;
    • Galmés, Antònia;
    • García-Ribes, Miguel;
    • Navarro, Carmen;
    • Ardanaz, Eva;
    • de la Paz, Manuel Posada
    Publication type:
    Article
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    UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P6, doi. 10.1186/1750-1172-9-S1-P6
    By:
    • Wood, Libby;
    • Evangelista, Teresinha;
    • Norwood, Fiona;
    • Orrell, Richard;
    • Pohlschmidt, Marita;
    • Busby, Mark;
    • Graham, Andrew;
    • Hilton-Jones, David;
    • Longman, Cheryl;
    • Lunt, Peter;
    • Roberts, Mark;
    • Watt, Stuart;
    • Watt, Suzanne;
    • Willis, Tracey;
    • Lochmüller, Hanns
    Publication type:
    Article
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    The importance of helplines in National Plans

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O12, doi. 10.1186/1750-1172-9-S1-O12
    By:
    • Mazzucato, Monica;
    • Houyez, François;
    • Facchin, Paola
    Publication type:
    Article
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    Se-atlas-cartographic representation of experts for rare diseases.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P1, doi. 10.1186/1750-1172-9-S1-P1
    By:
    • Storf, Holger;
    • Hartz, Tobias;
    • Pfeiffer, Wulf;
    • Rommel, Kathrin;
    • Derks, Mareike;
    • Nyoungui, Elisabeth;
    • Schmidtke, Joerg;
    • Graessner, Holm;
    • Knoell, Mirjam;
    • Wagner, Thomas;
    • Ueckert, Frank
    Publication type:
    Article
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    Empowerment Weekends for young adults.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O35, doi. 10.1186/1750-1172-9-S1-O35
    By:
    • Lemli, Annette;
    • Schwarzer, Nicole
    Publication type:
    Article
    46

    Emergency guidelines and emergency cards.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O15, doi. 10.1186/1750-1172-9-S1-O15
    By:
    • Faucounneau, Véronique;
    • Rath, Ana
    Publication type:
    Article
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