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1دورية أكاديمية
المؤلفون: Tischkowitz, M, Colas, C, Pouwels, S, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M
المصدر: Tischkowitz , M , Colas , C , Pouwels , S , Hoogerbrugge , N , Ligtenberg , M , Oostenbrink , R , Sijmons , R , Evans , G , Woodward , E , Peltonen , S & Hietala , M 2020 , ' Cancer Surveillance Guideline for individuals withPTENhamartoma tumour syndrome ' , European Journal of Human Genetics , vol. 28 , no. 10 , pp. 1387-1393 . https://doi.org/10.1038/s41431-020-0651-7Test
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/10.1038/s41431-020-0651-7Test
https://pure.eur.nl/en/publications/f67fe896-8ac5-48b7-a994-9a00aa12ce5dTest
https://pure.eur.nl/ws/files/48421611/Repub_127885_O-A.pdfTest -
2دورية أكاديمية
المؤلفون: Frebourg, T, Lagercrantz, SB, Oliveira, C, Magenheim, R, Evans, DGR, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M
المصدر: Frebourg , T , Lagercrantz , SB , Oliveira , C , Magenheim , R , Evans , DGR , Hoogerbrugge , N , Ligtenberg , M , Oostenbrink , R , Sijmons , R , Evans , G , Woodward , E , Peltonen , S & Hietala , M 2020 , ' Reply to Kratz et al ' , European Journal of Human Genetics , vol. 28 , no. 11 , pp. 1483-1485 . https://doi.org/10.1038/s41431-020-00710-yTest
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41431-020-00710-yTest
https://pure.eur.nl/en/publications/b8e6fbe5-c06a-49ab-83cf-4dd13f38ac98Test
https://pure.eur.nl/ws/files/48400319/Repub_129636_O-A.pdfTest
http://hdl.handle.net/1765/129636Test -
3دورية أكاديمية
المؤلفون: Tischkowitz, M, Colas, C, Pouwels, S, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M
المصدر: Tischkowitz , M , Colas , C , Pouwels , S , Hoogerbrugge , N , Ligtenberg , M , Oostenbrink , R , Sijmons , R , Evans , G , Woodward , E , Peltonen , S & Hietala , M 2020 , ' Cancer Surveillance Guideline for individuals withPTENhamartoma tumour syndrome ' , European Journal of Human Genetics , vol. 28 , no. 10 , pp. 1387-1393 . https://doi.org/10.1038/s41431-020-0651-7Test
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A, name=EMC MM-04-54-08-A, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41431-020-0651-7Test
https://pure.eur.nl/en/publications/f67fe896-8ac5-48b7-a994-9a00aa12ce5dTest
https://pure.eur.nl/ws/files/48421611/Repub_127885_O-A.pdfTest -
4دورية أكاديمية
المؤلفون: Frebourg, T, Lagercrantz, SB, Oliveira, C, Magenheim, R, Evans, DGR, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M
المصدر: Frebourg , T , Lagercrantz , SB , Oliveira , C , Magenheim , R , Evans , DGR , Hoogerbrugge , N , Ligtenberg , M , Oostenbrink , R , Sijmons , R , Evans , G , Woodward , E , Peltonen , S & Hietala , M 2020 , ' Reply to Kratz et al ' , European Journal of Human Genetics , vol. 28 , no. 11 , pp. 1483-1485 . https://doi.org/10.1038/s41431-020-00710-yTest
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A, name=EMC MM-04-54-08-A
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41431-020-00710-yTest
https://pure.eur.nl/en/publications/b8e6fbe5-c06a-49ab-83cf-4dd13f38ac98Test
https://pure.eur.nl/ws/files/48400319/Repub_129636_O-A.pdfTest
http://hdl.handle.net/1765/129636Test -
5دورية أكاديمية
المؤلفون: Corsten-Janssen, N, Bouman, K, Diphoorn, J C D, Scheper, A J, Kinds, R, El Mecky, J, Breet, H, Verheij, J B G M, Suijkerbuijk, R, Duin, L K, Manten, G T R, van Langen, I M, Sijmons, R H, Sikkema-Raddatz, B, Westers, H, van Diemen, C C
المصدر: Corsten-Janssen , N , Bouman , K , Diphoorn , J C D , Scheper , A J , Kinds , R , El Mecky , J , Breet , H , Verheij , J B G M , Suijkerbuijk , R , Duin , L K , Manten , G T R , van Langen , I M , Sijmons , R H , Sikkema-Raddatz , B , Westers , H & van Diemen , C C 2020 , ' A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/pd.5781Test
https://hdl.handle.net/11370/87334dbf-bc3b-4511-963a-66c5ae7aad5cTest
https://research.rug.nl/en/publications/87334dbf-bc3b-4511-963a-66c5ae7aad5cTest
https://pure.rug.nl/ws/files/151472886/A_prospective_study_on_rapid_exome_sequencing_as_a_diagnostic_test_for_multiple_congenital_anomalies_on_fetal_ultrasound.pdfTest -
6دورية 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 -
7دورية أكاديمية
المؤلفون: Vos, JR, Giepmans, L, Rohl, C, Geverink, N, Hoogerbrugge, N, Ligtenberg, M, Kets, M, Sijmons, R, Evans, G, Woodward, E, Tischkowitz, M, Maher, E, Steinke-Lange, V, Holinski-Feder, E, Frebourg, T, Houdayer, C, Ferner, RE, Lubinski, J, Ertmanska, K, Lagercrantz, SB, Tham, E, Guillermo, IB, Capella, G, Vidal, JB, Lazaro, C (Conxi), Balmana, J, Bours, V, Legius, E, Wolkenstein, P, Melegh, B, Oliveira, C, Teixeira, M, Poppe, B, Claes, K, Hernandez, HS, Aretz, AWM, Spier, I, Oostenbrink, Rianne, Krajc, M, Blatnik, A, Schrock, E, Peltonen, S, Hietala, M, Ern, G
المصدر: Vos , JR , Giepmans , L , Rohl , C , Geverink , N , Hoogerbrugge , N , Ligtenberg , M , Kets , M , Sijmons , R , Evans , G , Woodward , E , Tischkowitz , M , Maher , E , Steinke-Lange , V , Holinski-Feder , E , Frebourg , T , Houdayer , C , Ferner , RE , Lubinski , J , Ertmanska , K , Lagercrantz , SB , Tham , E , Guillermo , IB , Capella , G , Vidal , JB , Lazaro , C ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A, name=EMC MM-04-54-08-A, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s10689-018-0110-6Test
https://pure.eur.nl/en/publications/855dd436-8767-4041-bd06-1edd5637082fTest
https://pure.eur.nl/ws/files/48182503/Repub_116238_O-A.pdfTest
http://hdl.handle.net/1765/116238Test -
8دورية 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/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=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 -
9دورية 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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10دورية 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
