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1دورية أكاديمية
المؤلفون: Dingemans, A.J.M., Hinne, M., Truijen, K.M.G., Goltstein, L., Reeuwijk, J. van, Leeuw, N. de, Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I.J., Hoed, J. den, Boer, E. de, Spek, J. van der, Jansen, S., Bon, B.W. van, Jonis, N., Ockeloen, C.W., Silfhout, A.V.V.T., Kleefstra, T., Koolen, D.A., Campeau, P.M., Palmer, E.E., Esch, H. van, Lyon, G.J., Alkuraya, F.S., Rauch, A., Marom, R., Baralle, D., Sluijs, P.J. van der, Santen, G.W.E., Kooy, R.F., Gerven, M.A.J. van, Vissers, L.E.L.M., Vries, B.B.A. de
المصدر: Nature Genetics
وصف الملف: application/pdf
العلاقة: https://www.nature.com/articles/s41588-023-01469-wTest; lumc-id: 183893218; https://hdl.handle.net/1887/3764286Test
الإتاحة: https://doi.org/10.1038/s41588-023-01469-wTest
https://hdl.handle.net/1887/3764286Test
https://www.nature.com/articles/s41588-023-01469-wTest -
2دورية أكاديمية
المؤلفون: Ferreira, Elise A., Veenvliet, A.R.J., Engelke, U.F.H., Kluijtmans, L.A.J., Huigen, M.C.D.G., Hoegen, B., Boer, L. de, Vries, M.C. de, Bon, B.W. van, Leenders, E.K.S.M., Cornelissen, E.A.M., Haaxma, C.A., Schieving, J.H., Rennings, A.J.M., Karnebeek, C.D.M. van, Rodenburg, R.J.T., Coene, K.L.M.
المصدر: Genetics in Medicine, 25, 1, pp. 125-134
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIHS: Radboud Institute for Health Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/290161/290161.pdfTest; https://repository.ubn.ru.nl/handle/2066/290161Test
الإتاحة: https://doi.org/10.1016/j.gim.2022.10.002Test
https://repository.ubn.ru.nl//bitstream/handle/2066/290161/290161.pdfTest
https://repository.ubn.ru.nl/handle/2066/290161Test -
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المؤلفون: Stolz, J.R., Foote, K.M., Veenstra-Knol, H.E., Pfundt, R., Broeke, S.W. ten, Leeuw, N. de, Roht, L., Pajusalu, S., Part, R., Rebane, I., Ounap, K., Stark, Z., Kirk, E.P., Lawson, J.A., Lunke, S., Christodoulou, J., Louie, R.J., Rogers, R.C., Davis, J.M., Innes, A.M., Wei, X.C., Keren, B., Mignot, C., Lebel, R.R., Sperber, S.M., Sakonju, A., Dosa, N., Barge-Schaapveld, D.Q.C.M., Peeters-Scholte, C.M.P.C.D., Ruivenkamp, C.A.L., Bon, B.W. van, Kennedy, J., Low, K.J., Ellard, S., Pang, L.W., Junewick, J.J., Mark, P.R., Carvill, G.L., Swanson, G.T.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dfce94aba2dcb4d3e32ea042fd9139d1Test
https://hdl.handle.net/1887/3264402Test -
4دورية أكاديمية
المؤلفون: Radio, F.C., Pang, K., Ciolfi, A., Levy, M.A., Hernández-García, A., Pedace, L., Pantaleoni, F., Liu, Z, Boer, E. de, Jackson, A., Bruselles, A., McConkey, H., Stellacci, E., Cicero, S. Lo, Motta, M., Carrozzo, R., Dentici, M.L., McWalter, K., Desai, M., Monaghan, K.G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P.A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., MacKenzie, J.J., Monteleone, B., Saunders, C.J., Cuevas, J.K. Jean, Cross, L., Zhou, D., Hartley, T., Sawyer, S.L., Monteiro, F.P., Secches, T.V., Kok, F., Schultz-Rogers, L.E., Macke, E.L., Morava, E., Klee, E.W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D.J., Pais, L., Gallacher, L., Turnpenny, P.D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A.M.R., Carter, M.T., Kalsner, L., Vries, B.B.A. de, Bon, B.W. van, Wevers, M.R., Pfundt, R.P., Stegmann, A.P.A., Kerr, B., Kingston, H.M., Chandler, K.E., Sheehan, W., Elias, A.F., Shinde, D.N., Towne, M.C., Robin, N.H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R.T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E.C., Earl, R.K., Anderlid, B.M., Morin, G., Slegtenhorst, M. van, Diderich, K.E.M., Brooks, A.S., Gribnau, J., Boers, R.G., Finestra, T.R., Carter, L.B., Rauch, A., Gasparini, P., Vissers, L.E.L.M., Lloyd Holder, J., Tartaglia, M.
المصدر: American Journal of Human Genetics, 108, 3, pp. 502-516
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
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5دورية أكاديمية
المؤلفون: Sluijs, P.J. van der, Alders, M., Dingemans, A.J.M., Parbhoo, Kareesma, Bon, B.W. van, Dempsey, J.C., Vries, B.B.A. de, Maystadt, I., Santen, G.W.E.
المصدر: Genes, 12, 8
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/2066/237017/237017.pdfTest; https://repository.ubn.ru.nl/handle/2066/237017Test; https://doi.org/10.3390/genes12081275Test
الإتاحة: https://doi.org/10.3390/genes12081275Test
https://repository.ubn.ru.nl//bitstream/handle/2066/237017/237017.pdfTest
https://repository.ubn.ru.nl/handle/2066/237017Test -
6دورية أكاديمية
المؤلفون: Stolz, Jacob R., Foote, K., Veenstra-Knol, Hermine E., Pfundt, R.P., Broeke, Sanne W. ten, Leeuw, N. de, Bon, B.W. van, Carvill, G.L., Swanson, Geoffrey T.
المصدر: American Journal of Human Genetics, 108, 9, pp. 1692-1709
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/handle/2066/237141Test; https://doi.org/10.1016/j.ajhg.2021.07.007Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.07.007Test
https://repository.ubn.ru.nl/handle/2066/237141Test -
7دورية أكاديمية
المؤلفون: Jansen, N.A., Braden, R.O., Srivastava, S., Otness, E.F., Lesca, G., Rossi, M., Nizon, M., Bernier, R.A., Quelin, C., Haeringen, A. van, Kleefstra, T., Wong, M.M.K., Whalen, S., Fisher, S.E., Morgan, A.T., Bon, B.W. van
المصدر: European Journal of Human Genetics, 29, 8, pp. 1198-1205
مصطلحات موضوعية: Neuroinformatics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl/handle/2066/237822Test; https://doi.org/10.1038/s41431-021-00888-9Test
الإتاحة: https://doi.org/10.1038/s41431-021-00888-9Test
https://repository.ubn.ru.nl/handle/2066/237822Test -
8دورية أكاديمية
المؤلفون: Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Willemsen, M.H., Bon, B.W. van, Rinne, T.K., Kleefstra, T., Brunner, H.G., Yntema, H.G., Nickerson, Deborah A., Bamshad, Michael J.
المصدر: Nature Communications, 10
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/208995/208995.pdfTest; http://hdl.handle.net/2066/208995Test
الإتاحة: https://doi.org/10.1038/s41467-019-12435-8Test
http://hdl.handle.net/2066/208995Test
https://repository.ubn.ru.nl//bitstream/handle/2066/208995/208995.pdfTest -
9دورية أكاديمية
المؤلفون: Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E.Martina, Rinne, T.K., Kempers, M.J.E., Pfundt, R.P., Bon, B.W. van, McWalter, Kirsty, Cooper, Gregory M.
المصدر: American Journal of Human Genetics, 104, 4, pp. 701-708
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/202785/202785.pdfTest; http://hdl.handle.net/2066/202785Test; https://doi.org/10.1016/j.ajhg.2019.02.002Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.002Test
http://hdl.handle.net/2066/202785Test
https://repository.ubn.ru.nl//bitstream/handle/2066/202785/202785.pdfTest -
10دورية أكاديمية
المؤلفون: Jansen, S, Hoischen, A., Coe, B.P., Carvill, G.L., Esch, H. Van, Bosch, D.G.M., Bon, B.W. van, Claahsen-van der Grinten, H.L., Gilissen, C.F., Kleefstra, T., Koolen, D.A., Marcelis, C.L., Schuurs-Hoeijmakers, J.H.M., Pfundt, R.P., Steehouwer, M., Vries, P.F. de, Veltman, J.A., Brunner, H.G., Vissers, L.E.L.M., Eichler, E.E., Vries, B.B.A. de
المصدر: European Journal of Human Genetics, 26, 1, pp. 54-63
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 16: Vascular damage RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/183753/183753.pdfTest; http://hdl.handle.net/2066/183753Test
الإتاحة: https://doi.org/10.1038/s41431-017-0039-5Test
http://hdl.handle.net/2066/183753Test
https://repository.ubn.ru.nl//bitstream/handle/2066/183753/183753.pdfTest
