-
1دورية أكاديمية
المؤلفون: Spaanderman, Ide T., Peters, Fleur S., Jongejan, Aldo, Redeker, Egbert J. W., Punt, Cornelis J. A., Bins, Adriaan D.
المساهمون: Gao, Jianjiong, KWF Kankerbestrijding
المصدر: PLOS ONE ; volume 16, issue 6, page e0251630 ; ISSN 1932-6203
-
2دورية أكاديمية
المؤلفون: ten Broeke, Sanne W., van der Klift, Heleen M., Tops, Carli M. J., Aretz, Stefan, Bernstein, Inge, Buchanan, Daniel D., de la Chapelle, Albert, Capella, Gabriel, Clendenning, Mark, Engel, Christoph, Gallinger, Steven, Gomez Garcia, Encarna, Figueiredo, Jane C., Haile, Robert, Hampel, Heather L., Hopper, John L., Hoogerbrugge, Nicoline, Doeberitz, Magnus von Knebel, Le Marchand, Loic, Letteboer, Tom G. W., Jenkins, Mark A., Lindblom, Annika, Lindor, Noralane M., Mensenkamp, Arjen R., Moller, Pal, Newcomb, Polly A., van Os, Theo A. M., Pearlman, Rachel, Pineda, Marta, Rahner, Nils, Redeker, Egbert J. W., Olderode-Berends, Maran J. W., Rosty, Christophe, Schackert, Hans K., Scott, Rodney, Senter, Leigha, Spruijt, Liesbeth, Steinke-Lange, Verena, Suerink, Manon, Thibodeau, Stephen, Vos, Yvonne J., Wagner, Anja, Winship, Ingrid, Hes, Frederik J., Vasen, Hans F. A., Wijnen, Juul T., Nielsen, Maartje, Win, Aung Ko
المصدر: ten Broeke , S W , van der Klift , H M , Tops , C M J , Aretz , S , Bernstein , I , Buchanan , D D , de la Chapelle , A , Capella , G , Clendenning , M , Engel , C , Gallinger , S , Gomez Garcia , E , Figueiredo , J C , Haile , R , Hampel , H L , Hopper , J L , Hoogerbrugge , N , Doeberitz , M V K , Le Marchand , L , Letteboer , T G W , ....
مصطلحات موضوعية: NONPOLYPOSIS COLORECTAL-CANCER, HEREDITARY BREAST, ENDOMETRIAL CANCER, FAMILY-HISTORY, MUTATIONS, MLH1, PREVALENCE, VARIANTS, CARRIERS, GENES
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1200/JCO.2018.78.4777Test
https://hdl.handle.net/11370/7c4d5269-0b40-47ef-a997-5c42ca2358e9Test
https://research.rug.nl/en/publications/7c4d5269-0b40-47ef-a997-5c42ca2358e9Test
https://pure.rug.nl/ws/files/76325791/jco.2018.78.4777.pdfTest -
3دورية أكاديمية
المؤلفون: Dommering, Charlotte J, Henneman, Lidewij, van der Hout, Annemarie H, Jonker, Marianne A, Tops, Carli M J, van den Ouweland, Ans M W, van der Luijt, Rob B, Mensenkamp, Arjen R, Hogervorst, Frans B L, Redeker, Egbert J W, de Die-Smulders, Christine E M, Moll, Annette C, Meijers-Heijboer, Hanne
المساهمون: Genetica Sectie Genoomdiagnostiek, Cancer
مصطلحات موضوعية: Familial adenomatous polyposis, Hereditary breast ovarian cancer, Li–Fraumeni syndrome, Prenatal diagnosis, Retinoblastoma, Von Hippel–Lindau disease, Journal Article
وصف الملف: image/pdf
-
4دورية أكاديمية
المؤلفون: Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
المصدر: Dommering , C J , Henneman , L , van der Hout , A H , Jonker , M A , Tops , C M J , van den Ouweland , A M W , van der Luijt , R B , Mensenkamp , A R , Hogervorst , F B L , Redeker , E J W , de Die-Smulders , C E M , Moll , A C & Meijers-Heijboer , H 2017 , ' Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands ' , Familial Cancer , vol. ....
مصطلحات موضوعية: Retinoblastoma, Prenatal diagnosis, Von Hippel-Lindau disease, Li-Fraumeni syndrome, Familial adenomatous polyposis, Hereditary breast ovarian cancer, PREIMPLANTATION GENETIC DIAGNOSIS, ASSISTED REPRODUCTION, INCREASED RISK, BREAST-CANCER, SUSCEPTIBILITY, IDENTIFICATION, ATTITUDES, PREDISPOSITION, MUTATION, ISSUES
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s10689-016-9943-zTest
https://hdl.handle.net/11370/e6a4a720-be89-4c96-9bfb-795679a81844Test
https://research.rug.nl/en/publications/e6a4a720-be89-4c96-9bfb-795679a81844Test -
5دورية أكاديمية
المؤلفون: Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista, Johansson, Leonnart F., van Essen, Anthonie J, Verheij, Johanna B G M, Veenstra-Knol, Hermine E, Redeker, Egbert J W, Mannens, Marcel M A M, Swertz, Morris A, Alizadeh, Behrooz Z, van Ravenswaaij-Arts, Conny M A, Sinke, Richard J, Sikkema-Raddatz, Birgit
المصدر: Rump , P , Jazayeri , O , van Dijk-Bos , K , Johansson , L F , van Essen , A J , Verheij , J B G M , Veenstra-Knol , H E , Redeker , E J W , Mannens , M M A M , Swertz , M A , Alizadeh , B Z , van Ravenswaaij-Arts , C M A , Sinke , R J & Sikkema-Raddatz , B 2016 , ' Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly ' , BMC Medical ....
مصطلحات موضوعية: Autosomal recessive inheritance, ASPM, BRCA2, CASK, DYRK1A, ERCC8, KIF11, Microcephaly, RAB3GAP1 RNASEH2B, RTTN, Whole-exome sequencing, MENDELIAN DISORDERS, MUTATIONS, GENES, POPULATION, PHENOTYPE, UPDATE, MAP
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s12920-016-0167-8Test
https://hdl.handle.net/11370/18f19b8c-aa4f-405c-8d23-c875792263e6Test
https://research.rug.nl/en/publications/18f19b8c-aa4f-405c-8d23-c875792263e6Test
https://pure.rug.nl/ws/files/41442028/Whole_exome_sequencing_is_a_powerful_approach_for_establishing_the_etiological_diagnosis_in_patients_with_intellectual_disability_and_microcephaly.pdfTest -
6دورية أكاديمية
المؤلفون: Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
المصدر: Familial Cancer ; volume 16, issue 2, page 271-277 ; ISSN 1389-9600 1573-7292
مصطلحات موضوعية: Cancer Research, Genetics (clinical), Oncology, Genetics
-
7دورية أكاديمية
المؤلفون: Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit
المساهمون: grant from the University Medical Centre Groningen (Doelmatigheidsfonds).
المصدر: BMC Medical Genomics ; volume 9, issue 1 ; ISSN 1755-8794
مصطلحات موضوعية: Genetics (clinical), Genetics
-
8دورية أكاديمية
المؤلفون: Huisman, Sylvia A, Redeker, Egbert J W, Maas, Saskia M, Mannens, Marcel M, Hennekam, Raoul C M
مصطلحات موضوعية: Somatic mosaicism
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/50/5/339Test; http://dx.doi.org/10.1136/jmedgenet-2012-101477Test
الإتاحة: https://doi.org/10.1136/jmedgenet-2012-101477Test
http://jmg.bmj.com/cgi/content/short/50/5/339Test -
9دورية أكاديمية
المؤلفون: Hollants, Silke, Redeker, Egbert J W, Matthijs, Gert
المساهمون: EU-funded TECHGENE, EuroGentest
المصدر: Clinical Chemistry ; volume 58, issue 4, page 717-724 ; ISSN 0009-9147 1530-8561
مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry
الإتاحة: https://doi.org/10.1373/clinchem.2011.173963Test
http://academic.oup.com/clinchem/article-pdf/58/4/717/32657682/clinchem0717.pdfTest -
10دورية أكاديمية
المؤلفون: Kempers, Marlies J. E., Kuiper, Roland P., Ockeloen, Charlotte W., Chappuis, Pierre O., Hutter, Pierre, Rahner, Nils, Schackert, Hans K., Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Buettner, Reinhard, Verwiel, Eugene T. P., van Krieken, J. Han, Nagtegaal, Iris D., Goossens, Monique, van der Post, Rachel S., Niessen, Renee C., Sijmons, Rolf H., Kluijt, Irma, Hogervorst, Frans B. L., Leter, Edward M., Gille, Johan J. P., Aalfs, Cora M., Redeker, Egbert J. W., Hes, Frederik J., Tops, Carli M. J., van Nesselrooij, Bernadette P. M., van Gijn, Marielle E., Garcia, Encarna B. Gomez, Eccles, Diana M., Bunyan, David J., Syngal, Sapna, Stoffel, Elena M., Culver, Julie O., Palomares, Melanie R., Graham, Tracy, Velsher, Lea, Papp, Janos, Olah, Edith, Chan, Tsun L., Leung, Suet Y., van Kessel, Ad Geurts, Kiemeney, Lambertus A. L. M., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J. L.
المصدر: Kempers , M J E , Kuiper , R P , Ockeloen , C W , Chappuis , P O , Hutter , P , Rahner , N , Schackert , H K , Steinke , V , Holinski-Feder , E , Morak , M , Kloor , M , Buettner , R , Verwiel , E T P , van Krieken , J H , Nagtegaal , I D , Goossens , M , van der Post , R S , Niessen , R C , Sijmons , R H , Kluijt , I , Hogervorst , F ....
مصطلحات موضوعية: REPAIR GENE HMSH2, MUTATION CARRIERS, STEM-CELLS, MSH2, FAMILIES, HYPERMETHYLATION, SURVEILLANCE, METHYLATION, MANAGEMENT, TACSTD1
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/S1470-2045Test(10)70265-5
https://hdl.handle.net/11370/e61cdce5-1cb8-4798-80e0-68082ebd17a4Test
https://research.rug.nl/en/publications/e61cdce5-1cb8-4798-80e0-68082ebd17a4Test
https://pure.rug.nl/ws/files/237172519/1_s2.0_S1470204510702655_main.pdfTest