Search Results - Kaufmann, P.

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  1. 1
    The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

    The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact by Lochmüller, H., TorrentFarnell, J., Le Cam, Y., Jonker, A., Lau, L., Baynam, G., Kaufmann, P., Dawkins, Hugh, Lasko, P., Austin, C., Boycott, K.

    Published 2017
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  2. 2
    Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

    Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective by Austin, C., Cutillo, C., Lau, L., Jonker, A., Rath, A., Julkowska, D., Thomson, D., Terry, S., de Montleau, B., Ardigò, D., Hivert, V., Boycott, K., Baynam, Gareth, Kaufmann, P., Taruscio, D., Lochmüller, H., Suematsu, M., Incerti, C., Draghia-Akli, R., Norstedt, I., Wang, L., Dawkins, Hugh

    Published 2018
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  3. 3
    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases by Boycott, K., Rath, A., Chong, J., Hartley, T., Alkuraya, F., Baynam, Gareth, Brookes, A., Brudno, M., Carracedo, A., den Dunnen, J., Dyke, S., Estivill, X., Goldblatt, J., Gonthier, C., Groft, S., Gut, I., Hamosh, A., Hieter, P., Höhn, S., Hurles, M., Kaufmann, P., Knoppers, B., Krischer, J., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A., Rehm, H., Robinson, P., Sham, P., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M., Zhang, F., Brunner, H., Bamshad, M., Lochmüller, H.

    Published 2017
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  4. 4
    Improved diagnosis and care for rare diseases through implementation of precision public health framework

    Improved diagnosis and care for rare diseases through implementation of precision public health framework by Baynam, Gareth, Bowman, F., Lister, K., Walker, C., Pachter, N., Goldblatt, J., Boycott, K., Gahl, W., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, Fiona, Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P., Haendel, M., Brudno, M., Mattick, J., Dinger, M., Roscioli, T., Cowley, M., Olry, A., Hanauer, M., Alkuraya, F., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N., Julkowska, D., Le Cam, Y., Terry, S., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S., Austin, C., Draghia-Akli, R., Weeramanthri, Tarun, Molster, C., Dawkins, Hugh

    Published 2017
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