المؤلفون: Kohonen-Corish, M.R.J., Macrae, F., Genuardi, M., Aretz, S., Bapat, B., Bernstein, I.T., Burn, J., Cotton, R.G.H., Dunnen, J.T. den, Frebourg, T., Greenblatt, M.S., Hofstra, R., Holinski-Feder, E., Lappalainen, I., Lindblom, A., Maglott, D., Moller, P., Morreau, H., Moslein, G., Sijmons, R., Spurdle, A.B., Tavtigian, S., Tops, C.M.J., Weber, T.K., Wind, N. de, Woods, M.O., Contributors InSiGHT-HVP Workshop

المساهمون: Faculteit Medische Wetenschappen/UMCG, Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: Human Mutation, 32(4), 491-494. Wiley
Human Mutation, 32(4), 491-494

مصطلحات موضوعية: MISMATCH-REPAIR GENES, COLORECTAL-CANCER, SEQUENCE VARIANTS, CLASSIFICATION, MUTATIONS, DATABASE, MLH1, Colorectal cancer, Human Variome Project, Library science, HNPCC, Biology, Settore MED/03 - GENETICA MEDICA, Data submission, Bioinformatics, Genetics, medicine, Pilot program, cancer, Pathogenicity, Genetics (clinical), colon, Cancer, medicine.disease, Tumor Pathology, variant, HVP, InSiGHT

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9f38651ee2c776a7de7aa02e3c63a77Test
https://hdl.handle.net/11370/284bfc54-0070-4732-9308-5d8b2aeefc41Test

المؤلفون: Genuardi, Maurizio

المساهمون: Møller, P, Seppälä, I, Bernstein, I, Holinski Feder, E, Sala, P, Evans, Dg, Lindblom, A, Macrae, F, Blanco, I, Sijmons, R, Jeffries, J, Vasen, H, Burn, J, Nakken, S, Hovig, E, Rødland, Ea, Tharmaratnam, K, de Vos Tot Nederveen Cappel, Wh, Hill, J, Wijnen, J, Jenkins, M, Green, K, Lalloo, F, Sunde, L, Mints, M, Bertario, L, Pineda, M, Navarro, M, Morak, M, Renkonen Sinisalo, L, Frayling, Im, Plazzer, Jp, Pylvanainen, K, Genuardi, Maurizio, Mecklin, Jp, Möslein, G, Sampson, Jr, Capella, G, Mallorca, Group

مصطلحات موضوعية: CANCER GENETICS, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27261338; info:eu-repo/semantics/altIdentifier/wos/WOS:000407270400015; volume:66; issue:9; firstpage:1657; lastpage:1664; numberofpages:8; issueyear:2017; journal:GUT; http://hdl.handle.net/10807/93625Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84973325756

الإتاحة: https://doi.org/10.1136/gutjnl-2016-311403Test
http://hdl.handle.net/10807/93625Test

المؤلفون: Genuardi, Maurizio

المساهمون: Genuardi, Maurizio, 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, Thompson, Ba

مصطلحات موضوعية: InSiGHT locus-specific database, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24362816; info:eu-repo/semantics/altIdentifier/wos/WOS:000331208300006; volume:46; issue:2; firstpage:107; lastpage:115; numberofpages:9; issueyear:2014; journal:NATURE GENETICS; http://hdl.handle.net/10807/56195Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84895789502

الإتاحة: https://doi.org/10.1038/ng.2854Test
http://hdl.handle.net/10807/56195Test

المؤلفون: Genuardi, Maurizio

المساهمون: Sijmons, R, Greenblatt, M, Genuardi, Maurizio

مصطلحات موضوعية: NONPOLYPOSIS COLORECTAL-CANCER, MUTATIONS, CLASSIFICATION, PREDISPOSITION, TUMORS, BRCA1, MODEL, MLH1, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23525798; info:eu-repo/semantics/altIdentifier/wos/WOS:000322173700007; volume:12; issue:2; firstpage:181; lastpage:187; issueyear:N/A; journal:FAMILIAL CANCER; http://hdl.handle.net/10807/56966Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84880920383

الإتاحة: https://doi.org/10.1007/s10689-013-9629-8Test
http://hdl.handle.net/10807/56966Test

المؤلفون: Maurizio Genuardi.

المساهمون: Vasen, H. F. A., Blanco, I., Aktan-Collan, K., Gopie, J. P., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I. M., Genuardi, Maurizio, Hes, F. J., Hodgson, S. V., Karagiannis, J. A., Lalloo, F., Lindblom, A., Mecklin, J. -P., Moller, P., Myrhoj, T., Nagengast, F. M., Parc, Y., De Leon, M. P., Renkonen-Sinisalo, L., Sampson, J. R., Stormorken, A., Sijmons, R. H., Tejpar, S., Thomas, H. J. W., Rahner, N., Wijnen, J. T., Jarvinen, H. J., Moslein, G.

مصطلحات موضوعية: cancer, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23408351; info:eu-repo/semantics/altIdentifier/wos/WOS:000318230300004; volume:62; issue:6; firstpage:812; lastpage:823; numberofpages:12; issueyear:2013; journal:GUT; http://hdl.handle.net/10807/148724Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84876900933

الإتاحة: https://doi.org/10.1136/gutjnl-2012-304356Test
http://hdl.handle.net/10807/148724Test

المؤلفون: Genuardi, Maurizio

المساهمون: Kohonen Corish, M, Macrae, F, Genuardi, Maurizio, Aretz, S, Bapat, B, Bernstein, I, Burn, J, Cotton, R, Den Dunnen, J, Frebourg, T, Greenblatt, M, Hofstra, R, Holinski Feder, E, Lappalainen, I, Lindblom, A, Maglott, D, Moller, P, Morreau, H, Moslein, G, Sijmons, R, Spurdle, A, Tavtigian, S, Tops, C, Weber, T, De Wind, N, Woods, M.

مصطلحات موضوعية: MISMATCH-REPAIR GENES, COLORECTAL-CANCER, SEQUENCE VARIANTS, CLASSIFICATION, MUTATIONS, DATABASE, MLH1, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21387463; info:eu-repo/semantics/altIdentifier/wos/WOS:000288464100023; volume:32; issue:4; firstpage:491; lastpage:494; numberofpages:4; issueyear:2011; journal:HUMAN MUTATION; http://hdl.handle.net/10807/56976Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79952748466

الإتاحة: https://doi.org/10.1002/humu.21450Test
http://hdl.handle.net/10807/56976Test

المؤلفون: Genuardi, M, Quin, D, Weber, T

المساهمون: Kaput, J, Cotton, R, Hardman, L, Watson, M, Al Aqeel, A, Al-Aama, J, Al-Mulla, F, Alonso, S, Aretz, S, Auerbach, A, Bapat, B, Bernstein, I, Bhak, J, Bleoo, S, Blocker, H, Brenner, S, Burn, J, Bustamante, M, Calone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, Y, Chung, Y, Claustres, M, Cutting, G, Dalgleish, R, den Dunnen, J, Diaz, C, Dobrowolski, S, dos Santos, M, Ekong, R, Flanagan, S, Flicek, P, Furukawa, Y, Genuardi, Maurizio, Ghang, H, Golubenko, M, Greenblatt, M, Hamosh, A, Hancock, J, Hardison, R, Harrison, T, Hoffmann, R, Horaitis, R, Howard, H, Barash, C, Izagirre, N, Jung, J, Kojima, T, Laradi, S, Lee, Y, Lee, J, Gil-da-Silva-Lopes, V, Macrae, F, Maglott, D, Marafie, M, Marsh, S, Matsubara, Y, Messiaen, L, Moslein, G, Netea, M, Norton, M, Oefner, P, Oetting, W, O'Leary, J, de Ramirez, A, Paalman, M, Parboosingh, J, Patrinos, G, Perozzi, G, Phillips, I, Povey, S, Prasad, S, Qi, M, Quinzani, Dario, Ramesar, R, Richards, C, Savige, J, Scheible, D, Scott, R, Seminara, D, Shephard, E, Sijmons, R, Smith, T, Sobrido, M, Tanaka, T, Tavtigian, S, Taylor, G, Teague, J, Topel, T, Ullman-Cullere, M, Utsunomiya, J, van Kranen, H, Vihinen, M, Webb, E, Weber, Bertram, Yeager, M, Yeom, Y

مصطلحات موضوعية: INTERNATIONAL HAPMAP PROJECT, LOCUS-SPECIFIC DATABASES, HUMAN GENOME, DEVELOPING-COUNTRIES, GLOBAL HEALTH, GENETIC-VARIATION, MISSENSE VARIANTS, MUTATION DATABASE, GRAND CHALLENGES, HUMAN-DISEASE, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000265006400002; volume:30; issue:4; firstpage:496; lastpage:510; numberofpages:15; issueyear:2009; journal:HUMAN MUTATION; http://hdl.handle.net/10807/148711Test

الإتاحة: https://doi.org/10.1002/humu.20972Test
http://hdl.handle.net/10807/148711Test

المؤلفون: Genuardi, M

المساهمون: Greenblatt, M, Brody, L, Foulkes, W, Genuardi, Maurizio, Hofstra, R, Olivier, M, Plon, S, Sijmons, R, Sinilnikova, O, Spurdle, A

مصطلحات موضوعية: UNKNOWN CLINICAL-SIGNIFICANCE, DNA-SEQUENCE VARIANTS, MUTATION DATABASES, BIALLELIC MUTATIONS, ALLELIC VARIANTS, BRCA1, P53, PREDISPOSITION, MAMMOGRAMS, PHENOTYPE, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000260897200003; volume:29; issue:11; firstpage:1273; lastpage:1281; numberofpages:9; issueyear:2008; journal:HUMAN MUTATION; https://hdl.handle.net/10807/219833Test

الإتاحة: https://doi.org/10.1002/humu.20889Test
https://hdl.handle.net/10807/219833Test