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1دورية أكاديمية
المؤلفون: Figlioli, G., Billaud, A., Wang, Q., Bolla, M.K., Dennis, J., Lush, M., Kvist, A., Adank, M.A., Ahearn, T.U., Antonenkova, N.N., Auvinen, P., Behrens, S., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Brüning, T., Camp, N.J., Campbell, A., Castelao, J.E., Cessna, M.H., Czene, K., Devilee, P., Dörk, T., Eriksson, M., Fasching, P.A., Flyger, H., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., Glendon, G., Garcia, E.G., González-Neira, A., Grassmann, F., Guénel, P., Hahnen, E., Hamann, U., Hillemanns, P., Hooning, M.J., Hoppe, R., Howell, A., Humphreys, K., Jakubowska, A., Khusnutdinova, E.K., Kristensen, V.N., Lindblom, A., Loizidou, M.A., Lubinski, J., Mannermaa, A., Maurer, T., Mavroudis, D., Newman, W.G., Obi, N., Panayiotidis, M.I., Radice, P., Rashid, M.U., Rhenius, V., Ruebner, M., Saloustros, E., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Shah, M.T., Southey, M.C., Tomlinson, I., Truong, T., Veen, E.M. van, Wendt, C., Yang, X.H.R., Michailidou, K., Dunning, A.M., Pharoah, P.D.P., Easton, D.F., Andrulis, I.L., Evans, D.G., Hollestelle, A., Chang-Claude, J., Milne, R.L., Peterlongo, P., NBCS Collaborators, kConFab Investigators
المصدر: Cancers
مصطلحات موضوعية: breast cancer predisposition, breast cancer risk factors, FANCM PTVs spectrum, protein truncating variants, PTVs
وصف الملف: application/pdf
العلاقة: https://www.mdpi.com/2072-6694/15/13/3313Test; lumc-id: 186081058; https://hdl.handle.net/1887/3728559Test
الإتاحة: https://doi.org/10.3390/cancers15133313Test
https://hdl.handle.net/1887/3728559Test
https://www.mdpi.com/2072-6694/15/13/3313Test -
2دورية أكاديمية
المؤلفون: Morra, A., Schreurs, M.A.C., Andrulis, I.L., Anton-Culver, H., Augustinsson, A., Beckmann, M.W., Behrens, S., Bojesen, S.E., Bolla, M.K., Brauch, H., Broeks, A., Buys, S.S., Camp, N.J., Castelao, J.E., Cessna, M., Chang-Claude, J., Chung, W.K., Colonna, S., Couch, F.J., Cox, A., Cross, S.S., Czene, K., Daly, M.B., Dennis, J., Devilee, P., Dörk, T., Dunning, A.M., Dwek, M., Easton, D.F., Eccles, D.M., Eriksson, M., Evans, D.G., Fasching, P.A., Fehm, T.N., Figueroa, J.D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., García-Sáenz, J.A., Genkinger, J., Grassmann, F., Gündert, M., Hahnen, E., Haiman, C.A., Hamann, U., Harrington, P.A., Hartikainen, J.M., Hoppe, R., Hopper, J.L., Houlston, R.S., Howell, A., Jakubowska, A., Janni, W.G., Jernstroem, H., John, E.M., Johnson, N., Jones, M.E., Kristensen, V.N., Kurian, A.W., Lambrechts, D., Marchand, L. le, Lindblom, A., Lubinski, J., Lux, M.P., Mannermaa, A., Mavroudis, D., Mulligan, A.M., Muranen, T.A., Nevanlinna, H., Nevelsteen, I., Neven, P., Newman, W.G., Obi, N., Offit, K., Olshan, A.F., Park-Simon, T.W., Patel, A., Peterlongo, P., Phillips, K.A., Plaseska-Karanfilska, D., Polley, E.C., Presneau, N., Pylkäs, K., Rack, B., Radice, P., Rashid, M.U., Rhenius, V., Robson, M., Romero, A., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Schuetze, S., Scott, C., Shah, M.T., Smichkoska, S., Southey, M.C., Tapper, W.J., Teras, L.R., Tollenaar, R.A.E.M., Tomczyk, K., Tomlinson, I., Troester, M.A., Vachon, C.M., Veen, E.M. van, Wang, Q., Wendt, C., Wildiers, H., Winqvist, R., Ziogas, A., Hall, P., Pharoah, P.D.P., Adank, M.A., Hollestelle, A., Schmidt, M.K., Hooning, M.J., Nbcs Collaborators, Abctb Investigators, KConFab Investigators
المصدر: Cancer Medicine
مصطلحات موضوعية: CHEK2 c.1100delC germline genetic variant, contralateral breast cancer risk, radiotherapy, survival, systemic treatment
وصف الملف: application/pdf
العلاقة: lumc-id: 186077322; https://hdl.handle.net/1887/3722139Test
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3
المؤلفون: Dorling, L., Carvalho, S., Allen, J., Parsons, M.T., Fortuno, C., Gonzalez-Neira, A., Heijl, S.M., Adank, M.A., Ahearn, T.U., Andrulis, I.L., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bremer, M., Briceno, I., Camp, N.J., Campbell, A., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Collee, J.M., Czene, K., Dennis, J., Dork, T., Eriksson, M., Evans, D.G., Fasching, P.A., Figueroa, J., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Giles, G.G., Glendon, G., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartman, M., Hogervorst, F.B.L., Hollestelle, A., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kristensen, V.N., Lakeman, I.M.M., Li, J.M., Lindblom, A., Loizidou, M.A., Lophatananon, A., Lubinski, J., Luccarini, C., Madsen, M.J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R.L., Taib, N.A.M., Muir, K., Nevanlinna, H., Newman, W.G., Oosterwijk, J.C., Park, S.K., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Shah, M.T., Sim, X., Southey, M.C., Surowy, H., Suvanto, M., Tomlinson, I., Torres, D., Truong, T., Asperen, C.J. van, Waltes, R., Wang, Q., Yang, X.H.R., Pharoah, P.D.P., Schmidt, M.K., Benitez, J., Vroling, B., Dunning, A.M., Teo, S.H., Kvist, A., Hoya, M. de la, Devilee, P., Spurdle, A.B., Vreeswijk, M.P.G., Easton, D.F., NBCS Collaborators, KConFab Investigators, SGBCC Investigators
المساهمون: Clinical Genetics, Medical Oncology, Apollo - University of Cambridge Repository, Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), University of Helsinki, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Wellcome Trust, WT: 633784, v203477/Z/16/Z, Horizon 2020 Framework Programme, H2020, Cancer Research UK, CRUK: C1287/A16563, The sequencing and analysis for this project was funded by the European Union’s Horizon 2020 Research and Innovation Programme (BRIDGES: grant number 634935) and the Wellcome Trust [grant no: v203477/Z/16/Z]. BCAC co-ordination was additionally funded by the European Union’s Horizon 2020 Research and Innovation Programme (BRIDGES: grant number 634935, BCAST: grant number 633784) and by Cancer Research UK [C1287/A16563]. Study specific funding is given in the Additional Note., HAL UVSQ, Équipe
المصدر: Genome Medicine, 14(1). BMC
Genome Medicine, 14(1):51. BioMed Central Ltd.
Dorling, L, Carvalho, S, Allen, J, Parsons, M T, Fortuno, C, González-Neira, A, Heijl, S M, Adank, M A, Ahearn, T U, Andrulis, I L, Auvinen, P, Becher, H, Beckmann, M W, Behrens, S, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bremer, M, Briceno, I, Camp, N J, Campbell, A, Castelao, J E, Chang-Claude, J, Chanock, S J, Chenevix-Trench, G, Collée, J M, Czene, K, Dennis, J, Dörk, T, Eriksson, M, Evans, D G, Fasching, P A, Figueroa, J, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, Gündert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harkness, E F, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hoppe, R, Howell, A, Jakubowska, A, Jung, A, Khusnutdinova, E, Kim, S-W, Ko, Y-D, Kristensen, V N, Lakeman, I M M, Li, J, Lindblom, A, Loizidou, M A, Lophatananon, A, Lubiński, J, Luccarini, C, Madsen, M J, Mannermaa, A, Manoochehri, M, Margolin, S, Mavroudis, D, Milne, R L, Taib, N A M, Muir, K, Nevanlinna, H, Newman, W G, Oosterwijk, J C, Park, S K, Peterlongo, P, Radice, P, Saloustros, E, Sawyer, E J, Schmutzler, R K, Shah, M, Sim, X, Southey, M C, Surowy, H, Suvanto, M, Tomlinson, I, Torres, D, Truong, T, van Asperen, C J, Waltes, R, Wang, Q, Yang, X R, Pharoah, P D P, Schmidt, M K, Benitez, J, Vroling, B, Dunning, A M, Teo, S H, Kvist, A, de la Hoya, M, Devilee, P, Spurdle, A B, Vreeswijk, M P G & Easton, D F 2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, 51 . https://doi.org/10.1186/s13073-022-01052-8Test
Genome Med. 14:51 (2022)
Genome medicine, 14:51. BMC
2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, no. 1, 51, pp. 51 . https://doi.org/10.1186/s13073-022-01052-8Test
Genome Medicine
Genome Medicine, 2022, 14 (1), pp.51. ⟨10.1186/s13073-022-01052-8⟩مصطلحات موضوعية: Mutation, Missense, Breast Neoplasms, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Breast Neoplasms/genetics, Breast Cancer, Genetic Epidemiology, Missense Variants, Risk Prediction, CLASSIFICATION, Breast cancer, Missense variants, SDG 3 - Good Health and Well-being, 3123 Gynaecology and paediatrics, SEQUENCE VARIANTS, Genetics, Humans, Genetic Predisposition to Disease, Genetic epidemiology, ddc:610, skin and connective tissue diseases, Molecular Biology, Genetics (clinical), MUTATIONS, Research, UNKNOWN CLINICAL-SIGNIFICANCE, 1184 Genetics, developmental biology, physiology, FRAMEWORK, BRCA1, Risk prediction, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, SUBSTITUTIONS, Case-Control Studies, Mutation, Molecular Medicine, Female, Missense, PATHOGENICITY
وصف الملف: application/pdf; text/xml; application/zip
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c185147962665a775ec9e902da9f70Test
http://hdl.handle.net/1887/3563684Test -
4دورية أكاديمية
المؤلفون: Mukherjee, A., Patel, R., Zaveri, P., Shah, M.T., Munshi, N.S.
المساهمون: Nirma University, Gujarat State Biotechnology Mission
المصدر: Letters in Applied Microbiology ; volume 75, issue 4, page 785-795 ; ISSN 1472-765X 0266-8254
مصطلحات موضوعية: Applied Microbiology and Biotechnology
الإتاحة: https://doi.org/10.1111/lam.13612Test
https://academic.oup.com/lambio/article-pdf/75/4/785/48738824/lambio0785.pdfTest -
5كتاب
المؤلفون: Shah, M.T., Dadheech, Ekansh, Singh, Abhishek
المصدر: Technologies for Sustainable Development ; page 194-199 ; ISBN 9780429321573
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6دورية أكاديمية
المؤلفون: Park, J., Choi, J.Y., Choi, J., Chung, S., Song, N., Park, S.K., Han, W., Noh, D.Y., Ahn, S.H., Lee, J.W., Kim, M.K., Jee, S.H., Wen, W.Q., Bolla, M.K., Wang, Q., Dennis, J., Michailidou, K., Shah, M.T., Conroy, D.M., Harrington, P.A., Mayes, R., Czene, K., Hall, P., Teras, L.R., Patel, A.V., Couch, F.J., Olson, J.E., Sawyer, E.J., Roylance, R., Bojesen, S.E., Flyger, H., Lambrechts, D., Baten, A., Matsuo, K., Ito, H., Guenel, P., Truong, T., Keeman, R., Schmidt, M.K., Wu, A.N.H., Tseng, C.C., Cox, A., Cross, S.S., Andrulis, I.L., Hopper, J.L., Southey, M.C., Wu, P.E., Shen, C.Y., Fasching, P.A., Ekici, A.B., Muir, K., Lophatananon, A., Brenner, H., Arndt, V., Jones, M.E., Swerdlow, A.J., Hoppe, R., Ko, Y.D., Hartman, M., Li, J.M., Mannermaa, A., Hartikainen, J.M., Benitez, J., Gonzalez-Neira, A., Haiman, C.A., Dork, T., Bogdanova, N.V., Teo, S.H., Taib, N.A.M., Fletcher, O., Johnson, N., Grip, M., Winqvist, R., Blomqvist, C., Nevanlinna, H., Lindblom, A., Wendt, C., Kristensen, V.N., Tollenaar, R.A.E.M., Heemskerk-Gerritsen, B.A.M., Radice, P., Bonanni, B., Hamann, U., Manoochehri, M., Lacey, J.V., Martinez, M.E., Dunning, A.M., Pharoah, P.D.P., Easton, D.F., Yoo, K.Y., Kang, D., KConFab Investigators, NBCS Collaborators
المصدر: Cancers
مصطلحات موضوعية: breast cancer, estrogen, gene-environment interaction
وصف الملف: application/pdf
العلاقة: https://www.mdpi.com/2072-6694/13/10/2370/pdfTest; lumc-id: 168662399; https://hdl.handle.net/1887/3279856Test
الإتاحة: https://doi.org/10.3390/cancers13102370Test
https://hdl.handle.net/1887/3279856Test
https://www.mdpi.com/2072-6694/13/10/2370/pdfTest -
7دورية أكاديمية
المؤلفون: Khan, M.Y., Turab, S.A., Ali, L., Shah, M.T., Qadri, S.M.T., Latif, K., Akhter, M.G.
العلاقة: Leading Edge; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1190/tle40080590.1Test; https://hdl.handle.net/20.500.12831/6982Test; 40; 590; 600; 2-s2.0-85112113804
الإتاحة: https://doi.org/10.1190/tle40080590.1Test
https://doi.org/20.500.12831/6982Test
https://hdl.handle.net/20.500.12831/6982Test -
8مؤتمر
المؤلفون: Dubey, Kartika, Shah, M.T.
المصدر: 2016 International Conference on Automatic Control and Dynamic Optimization Techniques (ICACDOT)
الإتاحة: https://doi.org/10.1109/icacdot.2016.7877649Test
http://xplorestaging.ieee.org/ielx7/7871261/7877540/07877649.pdf?arnumber=7877649Test -
9مؤتمر
المؤلفون: Rathod, Dhiren K., Shah, M.T.
المصدر: 2016 International Conference on Electrical, Electronics, and Optimization Techniques (ICEEOT)
الإتاحة: https://doi.org/10.1109/iceeot.2016.7754913Test
http://xplorestaging.ieee.org/ielx7/7731602/7754737/07754913.pdf?arnumber=7754913Test -
10مؤتمر
المؤلفون: Kushwaha, Surabhi, Shah, M.T.
المصدر: 2016 IEEE 1st International Conference on Power Electronics, Intelligent Control and Energy Systems (ICPEICES)
الإتاحة: https://doi.org/10.1109/icpeices.2016.7853586Test
http://xplorestaging.ieee.org/ielx7/7836831/7853053/07853586.pdf?arnumber=7853586Test
