المؤلفون: Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, Anthony J., Brudno, M., Carracedo, A., den Dunnen, JT, Dyke, S. O. M., Estivill, X., Goldblatt, J., Gonthier, C., Groft, SC, Gut, I., Hamosh, A., Hieter, P., Höhn, S., Hurles, M. E., Kaufmann, P., Knoppers, B. M., Krischer, J. P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A .A., Rehm, H. L., Robinson, P. N., Sham, P-C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M. R., Zhang, F., Brunner, H., Bamshad, M. J., Lochmüller, H.

مصطلحات موضوعية: IRDiRC, Matchmaker Exchange, disease modeling, gene discovery, genome sequencing, ontologies, rare diseases, solving the unsolved, transcriptome sequencing, Databases, Factual, Exome, Genome, Human, Humans, International Cooperation

العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/28475856Test; American Journal of Human Genetics, 2017, 100 (5), pp. 695-705; https://www.sciencedirect.com/science/article/pii/S0002929717301477?via%3DihubTest; http://hdl.handle.net/2381/42090Test; S0002-9297(17)30147-7

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.04.003Test
https://www.sciencedirect.com/science/article/pii/S0002929717301477?via%3DihubTest
http://hdl.handle.net/2381/42090Test

المؤلفون: Thompson, Ba, Spurdle, Ab, Plazzer, Jp, Greenblatt, Ms, Akagi, K, Al Mulla, F, Bapat, B, Bernstein, I, Capellá, G, den Dunnen, Jt, du Sart, D, Fabre, A, Farrell, Mp, Farrington, Sm, Frayling, Im, Frebourg, T, Goldgar, De, Heinen, Cd, Holinski Feder, E, Kohonen Corish, M, Robinson, Kl, Leung, Sy, Martins, A, Moller, P, Morak, M, Nystrom, M, Peltomaki, P, Pineda, M, Qi, M, Ramesar, R, Rasmussen, Lj, Royer Pokora, B, Scott, Rj, Sijmons, R, Tavtigian, Sv, Tops, Cm, Weber, T, Wijnen, J, Woods, Mo, Macrae, F, Genuardi, M, PEDRONI, Monica

المساهمون: Thompson, Ba, Spurdle, Ab, Plazzer, Jp, Greenblatt, M, Akagi, K, Al Mulla, F, Bapat, B, Bernstein, I, Capellá, G, den Dunnen, Jt, du Sart, D, Fabre, A, Farrell, Mp, Farrington, Sm, Frayling, Im, Frebourg, T, Goldgar, De, Heinen, Cd, Holinski Feder, E, Kohonen Corish, M, Robinson, Kl, Leung, Sy, Martins, A, Moller, P, Morak, M, Nystrom, M, Peltomaki, P, Pineda, M, Qi, M, Ramesar, R, Rasmussen, Lj, Royer Pokora, B, Scott, Rj, Sijmons, R, Tavtigian, Sv, Tops, Cm, Weber, T, Wijnen, J, Woods, Mo, Macrae, F, Genuardi, M, Pedroni, Monica

مصطلحات موضوعية: Classification, DNA Mismatch Repair, Disease Management, Gastrointestinal Neoplasm, Genetic Variation, Human, Databases, Genetic

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24362816; info:eu-repo/semantics/altIdentifier/wos/WOS:000331208300006; volume:46; firstpage:107; lastpage:115; journal:NATURE GENETICS; http://hdl.handle.net/11380/1062794Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84895789502

الإتاحة: https://doi.org/10.1038/ng.2854Test
http://hdl.handle.net/11380/1062794Test

المؤلفون: Kohonen-Corish, MR, Al-Aama, JY, Auerbach, AD, Axton, M, Barash, CI, Bernstein, I, Béroud, C, Burn, J, Cunningham, F, Cutting, GR, den Dunnen, JT, Greenblatt, MS, Kaput, J, Katz, M, Lindblom, A, Macrae, F, Maglott, D, Möslein, G, Povey, S, Ramesar, R, Richards, S, Seminara, D, Sobrido, MJ, Tavtigian, S, Taylor, G, Vihinen, M, Winship, I, Cotton, RG, Human Variome Project Meeting

المصدر: Hum Mutat , 31 (12) 1374 - 1381. (2010)

مصطلحات موضوعية: Data Collection, Databases, Genetic, Genetic Variation, Genome, Human, Humans, Individualized Medicine, Motivation, Mutation, Paris, Software, Terminology as Topic, United Nations, scipo, envir

العلاقة: http://discovery.ucl.ac.uk/1413873Test/

الإتاحة: http://discovery.ucl.ac.uk/1413873Test/