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1دورية أكاديمية
المؤلفون: Wijnen, I.G.M., Veenstra-Knol, H.E., Vansenne, F., Gerkes, E.H., de Koning, T., Vos, Y.J., Tijssen, M.A.J., Sival, D., Darin, N., Vanhoutte, E.K., Oosterloo, M., Pennings, M., van de Warrenburg, B.P., Kamsteeg, E.J.
المصدر: Wijnen , I G M , Veenstra-Knol , H E , Vansenne , F , Gerkes , E H , de Koning , T , Vos , Y J , Tijssen , M A J , Sival , D , Darin , N , Vanhoutte , E K , Oosterloo , M , Pennings , M , van de Warrenburg , B P & Kamsteeg , E J 2020 , ' De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability ' , European Journal of Human Genetics , vol. 28 , no. ....
مصطلحات موضوعية: mutations, paraplegias, transcription
الإتاحة: https://doi.org/10.1038/s41431-020-0600-5Test
https://cris.maastrichtuniversity.nl/en/publications/72d9007f-8200-49b2-b9c5-2cad5a85a50dTest -
2دورية أكاديمية
المؤلفون: Alimohamed, M.Z., Boven, L.G., Dijk, K.K. van, Vos, Y.J., Hoedemaekers, Y.M., Zwaag, Paul A. van der, Sikkema-Raddatz, B., Westers, Helga
المصدر: Gene, 851
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/285291/285291.pdfTest; https://repository.ubn.ru.nl/handle/2066/285291Test
الإتاحة: https://doi.org/10.1016/j.gene.2022.146984Test
https://repository.ubn.ru.nl//bitstream/handle/2066/285291/285291.pdfTest
https://repository.ubn.ru.nl/handle/2066/285291Test -
3دورية أكاديمية
المؤلفون: Vlaskamp, D.R.M. (Danique R.M.), Callenbach, P.M.C. (Petra), Rump, P. (Patrick), Giannini, L.A.A. (Lucia A.A.), Brilstra, E.H. (Eva H.), Dijkhuizen, T. (Trijnie), Vos, Y.J. (Yvonne), van der Kevie-Kersemaekers, A.M.F., Knijnenburg, J. (Jeroen), Leeuw, N. (Nicole) de, Thornton, A.S. (Andrew), Ruivenkamp, C.A. (Claudia), Stegmann, A.P.A. (Alexander P.A.), Brouwer, O.F. (Oebele), Ravenswaaij-Arts, C.M.A. (Conny) van
المصدر: European Journal of Medical Genetics
مصطلحات موضوعية: Benign infantile epilepsy, Microarray, Movement disorder, Seizure, Sequencing
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/109989Test; urn:hdl:1765/109989
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4دورية أكاديمية
المؤلفون: Ten Broeke, S.W. (Sanne W.), Elsayed, F.A. (Fadwa A.), Pagan, L. (Lisa), Olderode-Berends, M. (Maran), Garcia, E.B.G., Gille, H.J.P. (Hans), Hest, L.P. (Liselotte) van, Letteboer, T.G.W. (Tom), Kolk, L.E. (Lizet) van der, Mensenkamp, A.R. (Arjen R.), Os, T.A.M. (Theo) van, Spruijt, L. (Liesbeth), Redeker, B. (Bert), Suerink, M. (Manon), Vos, Y.J. (Yvonne), Wagner, A. (Anja), Wijnen, J.T. (Juul), Steyerberg, E.W. (Ewout), Tops, C. (Carli), Wezel, T. (Tom) van, Nielsen, M. (Maartje)
المصدر: Familial Cancer, pp. 1-9
مصطلحات موضوعية: Cancer risk, Colorectal cancer, Lynch syndrome, Modifiers, PMS2, SNP
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/103002Test; urn:hdl:1765/103002
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5دورية أكاديمية
المؤلفون: Alimohamed, M.Z., Johansson, L.F., Posafalvi, A., Boven, L.G., Dijk, K.K. van, Walters, L., Vos, Y.J., Westers, H., Hoedemaekers, Y.M., Sinke, R.J., Sijmons, R.H., Sikkema-Raddatz, B., Jongbloed, J.D., Zwaag, Paul A. van der
المصدر: International Journal of Cardiology, 332, pp. 99-104
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/245040/245040.pdfTest; https://repository.ubn.ru.nl/handle/2066/245040Test; https://doi.org/10.1016/j.ijcard.2021.02.069Test
الإتاحة: https://doi.org/10.1016/j.ijcard.2021.02.069Test
https://repository.ubn.ru.nl//bitstream/handle/2066/245040/245040.pdfTest
https://repository.ubn.ru.nl/handle/2066/245040Test -
6دورية أكاديمية
المؤلفون: Moghadasi, S., Fijn, R., Beeres, S.L.M.A., Bikker, H., Jongbloed, J.D.H., Jitta, D.J., Kroep, J.R., Deprez, R.H.L., Vos, Y.J., Vreede, M.J.M. de, Antoni, M.L., Barge-Schaapveld, D.Q.C.M.
المصدر: EUROPEAN HEART JOURNAL-CASE REPORTS
مصطلحات موضوعية: Cardiomyopathies/chemically induced, Cardiomyopathies/genetics, Genetic predisposition to disease, Anthracyclines, Case series
وصف الملف: application/pdf
العلاقة: https://academic.oup.com/ehjcr/article-pdf/5/10/ytab333/40828209/ytab333.pdfTest; lumc-id: 122461516; https://hdl.handle.net/1887/3257105Test
الإتاحة: https://doi.org/10.1093/ehjcr/ytab333Test
https://hdl.handle.net/1887/3257105Test
https://academic.oup.com/ehjcr/article-pdf/5/10/ytab333/40828209/ytab333.pdfTest -
7دورية أكاديمية
المؤلفون: Terlouw, D., Suerink, M., Singh, S.S., Gille, H.J.J.P., Hes, F.J., Langers, A.M.J., Morreau, H., Vasen, H.F.A., Vos, Y.J., Wezel, T. van, Tops, C.M., Broeke, S.W. ten, Nielsen, M.
المصدر: European Journal of Human Genetics
وصف الملف: application/pdf
العلاقة: https://www.nature.com/articles/s41431-019-0509-zTest; lumc-id: 81343618; https://hdl.handle.net/1887/3181477Test
الإتاحة: https://doi.org/10.1038/s41431-019-0509-zTest
https://hdl.handle.net/1887/3181477Test
https://www.nature.com/articles/s41431-019-0509-zTest -
8دورية أكاديمية
المؤلفون: van Riel, E., Ausems, M.G.E.M., Hogervorst, F.B.L., Kluijt, I, van Gijn, M.E., van Echtelt, J., Scheidel-Jacobse, K., Hennekam, E.F.A.M., Stulp, R.P., Vos, Y.J., Offerhaus, G.J.A., Menko, F.H., Gille, J.J.P.
المصدر: van Riel , E , Ausems , M G E M , Hogervorst , F B L , Kluijt , I , van Gijn , M E , van Echtelt , J , Scheidel-Jacobse , K , Hennekam , E F A M , Stulp , R P , Vos , Y J , Offerhaus , G J A , Menko , F H & Gille , J J P 2010 , ' A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome ' , Hereditary Cancer in Clinical Practice , vol. 8 ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/1897-4287-8-7Test
https://research.vumc.nl/en/publications/bbeac519-9342-4662-8f0e-517a6f73f7ddTest
https://research.vumc.nl/ws/files/718172/257682.pdfTest -
9دورية أكاديمية
المؤلفون: Vlaskamp, D.R.M., Callenbach, P.M.C., Rump, P., Giannini, L.A.A., Brilstra, E.H., Dijkhuizen, T., Vos, Y.J., Kevie-Kersemaekers, A.M.F. van der, Knijnenburg, J., Leeuw, N. de, Minkelen, R. van, Ruivenkamp, C.A.L., Stegmann, A.P.A., Brouwer, O.F., Ravenswaaij-Arts, C.M.A. van
المصدر: European Journal of Medical Genetics
مصطلحات موضوعية: Benign infantile epilepsy, Seizure, Movement disorder, Sequencing, Microarray
العلاقة: lumc-id: 81346025; https://hdl.handle.net/1887/122233Test
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10دورية أكاديميةAn alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
المؤلفون: Suerink, M., Rodriguez-Girondo, M., Klift, H.M. van der, Colas, C., Brugieres, L., Lavoine, N., Jongmans, M., Munar, G.C., Evans, D.G., Farrell, M.P., Genuardi, M., Goldberg, Y., Gomez-Garcia, E., Heinimann, K., Hoell, J.I., Aretz, S., Jasperson, K.W., Kedar, I., Modi, M.B., Nikolaev, S., Os, T.A.M. van, Ripperger, T., Rueda, D., Senter, L., Sjursen, W., Sunde, L., Therkildsen, C., Tibiletti, M.G., Trainer, A.H., Vos, Y.J., Wagner, A., Winship, I., Wimmer, K., Zimmermann, S.Y., Vasen, H.F., Asperen, C.J. van, Houwing-Duistermaat, J.J., Broeke, S.W. ten, Nielsen, M.
المصدر: Genetics in Medicine
مصطلحات موضوعية: HNPCC, colon cancer risk, PMS2, MSH6, bMMRD
العلاقة: lumc-id: 64428841; https://hdl.handle.net/1887/121221Test
