Search Results - Lochmuller, H.

Role of international registries in enhancing the care of familial hypercholesterolaemia by Hammond, E., Watts, G., Rubinstein, Y., Farid, W., Livingston, M., Knowles, J., Lochmuller, H., Bellgard, M., Dawkins, Hugh

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The risk of re-identification versus the need to identify individuals in rare disease research. by Hansson, M., Lochmuller, H., Riess, O., Schaefer, F., Orth, M., Rubinstein, Y., Molster, C., Dawkins, Hugh, Taruscio, D., Posada, M., Woods, S.

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International Charter of principles for sharing bio-specimens and data by Mascalzoni, D., Dove, E., Rubinstein, Y., Dawkins, Hugh, Kole, A., Mccormack, P., Woods, S., Riess, O., Schaefer, F., Lochmüller, H., Knoppers, B., Hansson, M.

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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.

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Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1) by Laing, N., Dye, Danielle, Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T., Lochmüller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J., Beggs, A., Nowak, K.

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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

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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.

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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

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources by Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., Robinson, P.N.

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