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11دورية أكاديمية
المؤلفون: De Jong, K., Hof, J., Visser, L., Hoppener, D., Nierop, P., Terpstra, M., Gouw, A., Grünhagen, D., Verhoef, C., Sijmons, R., Kok, K.
المصدر: HPB ; volume 22, page S357-S358 ; ISSN 1365-182X
مصطلحات موضوعية: Gastroenterology, Hepatology
الإتاحة: https://doi.org/10.1016/j.hpb.2020.04.375Test
https://api.elsevier.com/content/article/PII:S1365182X20305025?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1365182X20305025?httpAccept=text/plainTest -
12دورية أكاديمية
المؤلفون: Manders, P, Vos, JR, De Voer, RM, Hest, LP, Sijmons, R, Hoge, CV, Terpstra, FG, Spaander, Manon, Mesker, W E, Dekker, E, Hoogerbrugge, N
المصدر: Manders , P , Vos , JR , De Voer , RM , Hest , LP , Sijmons , R , Hoge , CV , Terpstra , FG , Spaander , M , Mesker , W E , Dekker , E & Hoogerbrugge , N 2019 , ' Parelsnoer institute biobank hereditary colorectal cancer: A joint infrastructure for patient data and biomaterial on hereditary colorectal cancer in the Netherlands ' , Open Journal of Bioresources , vol. 6 , 1 . https://doi.org/10.5334/ojb.54Test
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.5334/ojb.54Test
https://pure.eur.nl/en/publications/efe84eb7-c624-4306-9e9b-8472552dee33Test
https://pure.eur.nl/ws/files/48314270/Repub_119835_O-A.pdfTest -
13دورية أكاديمية
المؤلفون: Weren, R, Van, Der Post R, Vogelaar, I, Han, Van Krieken J, Spruijt, L, Lubinski, J, Jakubowska, A, Teodorczyk, U, Aalfs, C, Van, Hest L, Oliveira, C, Kamping, E, Schackert, H, Ranzani, G, García, E, Hes, F, Holinski-Feder, E, Genuardi, M, Ausems, M, Sijmons, R, Wagner, A, Van, Der Kolk L, Cats, A, Bjørnevoll, I, Hoogerbrugge, N, Ligtenberg, M
المساهمون: Instituto de Investigação e Inovação em Saúde
مصطلحات موضوعية: Adult, Aged, Antigens, CD / genetics, Cadherins / genetics, Cohort Studies, Europe, Female, Genetic Predisposition to Disease, Germ-Line Mutation, High-Throughput Nucleotide Sequencing, Humans, MAP Kinase Kinase Kinases / genetics, Male, Middle Aged, Myeloid Differentiation Factor 88 / genetics, Sequence Analysis, DNA, Stomach Neoplasms / genetics, Young Adult, alpha Catenin / genetics
وصف الملف: application/pdf
العلاقة: Journal of Medical Genetics, vol.55(10), p. 669-674; https://jmg.bmj.com/content/55/10/669.longTest; https://hdl.handle.net/10216/127054Test
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14دورية أكاديمية
المؤلفون: Seppälä T, Pylvänäinen K, Evans DG, Järvinen H, Renkonen-Sinisalo L, Bernstein I, Holinski-Feder E, Sala P, 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, Genuardi M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Frayling IM, Plazzer JP, Sampson JR, Capella G, Möslein G, Mecklin JP, Møller P
المساهمون: School of Medicine / Clinical Medicine
مصطلحات موضوعية: Lynch syndrome, Hereditary non-polyposis colorectal cancer, Colorectal cancer, Microsatellite instability
العلاقة: Hereditary cancer in clinical practice; http://dx.doi.org/10.1186/s13053-017-0078-5Test; 18; 15; https://erepo.uef.fi/handle/123456789/5257Test
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15دورية أكاديمية
المؤلفون: Thompson, BA, Spurdle, AB, Plazzer, JP, Greenblatt, MS, Akagi, K, Al-Mulla, F, Bapat, B, Bernstein, I, Capella, 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
المصدر: Nature genetics. 46(2):107
مصطلحات موضوعية: Medicin och hälsovetenskap
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16دورية أكاديمية
المؤلفون: Van den Berg-De Ruiter, E., Alimohamed, M. Z., Johansson, L. F., de Boer, E. N., Splinter, E., Klous, P., Bosga, A. G., van Min, M., Mulder, A. B., Vellenga, E., Sinke, R. J., Sijmons, R. H., Sikkema-Raddatz, B.
المصدر: Van den Berg-De Ruiter , E , Alimohamed , M Z , Johansson , L F , de Boer , E N , Splinter , E , Klous , P , Bosga , A G , van Min , M , Mulder , A B , Vellenga , E , Sinke , R J , Sijmons , R H & Sikkema-Raddatz , B 2017 , ' A Comprehensive Dna Test For The Detection Of Translocations In Acute Leukemia ' , Haematologica , vol. 102 , pp. 368 . < http://www.haematologica.org/content/102/s2/1Test >
وصف الملف: application/pdf
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17دورية أكاديمية
المؤلفون: Johansson, L. F., de Boer, E. N., de Weerd, H. A., van Dijk, F., Elferink, M. G., Schuring-Blom, G. H., Suijkerbuijk, R. F., Sinke, R. J., te Meerman, G. J., Sijmons, R. H., Swertz, M. A., Sikkema-Raddatz, B.
المصدر: Johansson , L F , de Boer , E N , de Weerd , H A , van Dijk , F , Elferink , M G , Schuring-Blom , G H , Suijkerbuijk , R F , Sinke , R J , te Meerman , G J , Sijmons , R H , Swertz , M A & Sikkema-Raddatz , B 2017 , ' Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing ' , Scientific Reports , vol. 7 , no. 1 , 1838 . https://doi.org/10.1038/s41598-017-02031-5Test
مصطلحات موضوعية: CELL-FREE DNA, MATERNAL PLASMA, FETAL DNA, ANEUPLOIDY, DIAGNOSIS, BLOOD, AMPLIFICATION, TRISOMY-18, ALIGNMENT, BIAS
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41598-017-02031-5Test
https://hdl.handle.net/11370/5f20f8ef-1a74-486c-a3a0-4c975d661c46Test
https://research.rug.nl/en/publications/5f20f8ef-1a74-486c-a3a0-4c975d661c46Test
https://pure.rug.nl/ws/files/47381845/Novel_Algorithms_for_Improved_Sensitivity_in_Non_Invasive_Prenatal_Testing.pdfTest -
18دورية أكاديمية
المؤلفون: Moller, P, Seppala, T, 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, Rodland, EA, Tharmaratnam, K, Cappel, WHDVTN, 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, J-P, Pylvanainen, K, Genuardi, M, Mecklin, J-P, Moslein, G, Sampson, JR, Capella, G
العلاقة: NHMRC/1063840; NHMRC/1020493; pii: gutjnl-2016-311403; Moller, P., Seppala, T., Bernstein, I., Holinski-Feder, E., Sala, P., Evans, D. G., Lindblom, A., Macrae, F., Blanco, I., Sijmons, R., Jeffries, J., Vasen, H., Burn, J., Nakken, S., Hovig, E., Rodland, E. A., Tharmaratnam, K., Cappel, W. H. D. V. T. N., Hill, J. ,. Capella, G. (2017). Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. GUT, 66 (9), pp.1657-1664. https://doi.org/10.1136/gutjnl-2016-311403Test.; http://hdl.handle.net/11343/220794Test
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19دورية أكاديمية
المؤلفون: Kohonen-Corish, MRJ, Macrae, F, Genuardi, M, Aretz, S, Bapat, B, Bernstein, IT, Burn, J, Cotton, RGH, den Dunnen, JT, Frebourg, T, Greenblatt, MS, Hofstra, R, Holinski-Feder, E, Lappalainen, I, Lindblom, A, Maglott, D, Moller, P, Morreau, H, Moslein, G, Sijmons, R, Spurdle, AB, Tavtigian, S, Tops, CMJ, Weber, TK, de Wind, N, Woods, MO
المصدر: Human mutation. 32(4):491-494
مصطلحات موضوعية: Medicin och hälsovetenskap
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20دورية أكاديمية
المؤلفون: Dominguez-Valentin M., Plazzer J. -P., Sampson J. R., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Macrae F., Winship I. M., Thomas H., Evans D. G., Burn J., Greenblatt M., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Nielsen M., Bertario L., Bonanni B., Tibiletti M. G., Cavestro G. M., Lindblom A., Della Valle A., Lopez-Kostner F., Alvarez K., Gluck N., Katz L., Heinimann K., Vaccaro C. A., Nakken S., Hovig E., Green K., Lalloo F., Hill J., Vasen H. F. A., Perne C., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., Doeberitz M. V. K., Loeffler M., Rahner N., Weitz J., Steinke-Lange V., Schmiegel W., Vangala D., Crosbie E. J., Pineda M., Navarro M., Brunet J., Moreira L., Sanchez A., Serra-Burriel M., Mints M., Kariv R., Rosner G., Pinero T. A., Pavicic W. H., Kalfayan P., Ten Broeke S. W., Mecklin J. -P., Pylvanainen K., Renkonen-Sinisalo L., Lepisto A., Peltomaki P., Hopper J. L., Win A. K., Buchanan D. D., Lindor N. M., Gallinger S., Marchand L. L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Therkildsen C., Hansen T. V. O., Lindberg L., Rodland E. A., Neffa F., Esperon P., Tjandra D., Moslein G., Seppala T. T., Moller P.
المساهمون: Dominguez-Valentin, M., Plazzer, J. -P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M. V. K., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E. J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sanchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Pinero, T. A., Pavicic, W. H., Kalfayan, P., Ten Broeke, S. W., Mecklin, J. -P., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomaki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, T. V. O., Lindberg, L., Rodland, E. A., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Seppala, T. T., Moller, P.
مصطلحات موضوعية: Aberrant splicing, Cancer incidence, Lynch syndrome, Missense, MLH1, MSH2, Penetrance, Truncating
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000671268400001; volume:10; issue:13; firstpage:2856; journal:JOURNAL OF CLINICAL MEDICINE; http://hdl.handle.net/20.500.11768/126442Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114073501
الإتاحة: https://doi.org/20.500.11768/126442Test
https://doi.org/10.3390/jcm10132856Test
https://hdl.handle.net/20.500.11768/126442Test
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