المؤلفون: Schobers, G.M.G., Derks, R.C., Ouden, A.P.M. den, Swinkels, H.L., Reeuwijk, J. van, Bosgoed, E.A.J., Lugtenberg, D., Sun, S.M., Corominas-Galbany, J., Weiss, M., Blok, M.J., Olde Keizer, R.A.C.M., Hofste, Tom, Hellebrekers, D., Leeuw, N. de, Stegmann, A., Kamsteeg, E.J., Paulussen, A.D., Ligtenberg, M.J., Bradley, X.Z., Peden, J., Gutierrez, A., Pullen, Adam, Payne, T., Gilissen, C.F.H.A., Wijngaard, A. van den, Brunner, H.G., Nelen, M.R., Yntema, H.G., Vissers, L.E.L.M.

المصدر: Genome Medicine, 16, 1, pp. 32

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 14: Tumours of the digestive tract Human Genetics, Radboudumc 14: Tumours of the digestive tract Pathology, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders Human Genetics

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/305176/305176.pdfTest; https://repository.ubn.ru.nl/handle/2066/305176Test

الإتاحة: https://doi.org/10.1186/s13073-024-01301-yTest
https://repository.ubn.ru.nl//bitstream/handle/2066/305176/305176.pdfTest
https://repository.ubn.ru.nl/handle/2066/305176Test

المؤلفون: Marouane, A., Neveling, K., Deden, A.C., Heuvel, Simone van den, Zafeiropoulou, D., Castelein, Steven, Veerdonk, F.L. van de, Koolen, D.A., Simons, A., Rodenburg, R.J.T., Westra, D., Mensenkamp, A.R., Leeuw, N. de, Ligtenberg, M.J.L., Matthijsse, R., Pfundt, R.P., Kamsteeg, E.J., Brunner, H.G., Gilissen, C.F.H.A., Feenstra, I., Boode, W.P. de, Yntema, H.G., Zelst-Stams, W.A.G. van, Nelen, M.R., Vissers, L.E.L.M.

المصدر: Frontiers in Genetics, 14, pp. 1304520

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research Paediatrics, Radboudumc 11: Renal disorders Human Genetics, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 14: Tumours of the digestive tract Human Genetics, Radboudumc 14: Tumours of the digestive tract Pathology, Radboudumc 16: Vascular damage Paediatrics, Radboudumc 17: Women's cancers Human Genetics, Radboudumc 2: Cancer development and immune defence Human Genetics, Radboudumc 4: lnfectious Diseases and Global Health Internal Medicine, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 6: Metabolic Disorders Paediatrics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders Human Genetics

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/302678/302678.pdfTest; https://repository.ubn.ru.nl/handle/2066/302678Test

الإتاحة: https://doi.org/10.3389/fgene.2023.1304520Test
https://repository.ubn.ru.nl//bitstream/handle/2066/302678/302678.pdfTest
https://repository.ubn.ru.nl/handle/2066/302678Test

المؤلفون: Vaz, Frederic M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, R.A., Nelen, M.R., Verrips, A., Salomons, Gajja S., Huidekoper, H.H.

المصدر: Clinica Chimica Acta, 539, pp. 170-174
Clinica Chimica Acta, 539, 170-174

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b05528dbff79efe1a8bd56a7c9739579Test
https://hdl.handle.net/2066/288906Test

المؤلفون: Olde Keizer, R.A.C.M., Marouane, A., Kerstjens-Frederikse, W.S., Deden, A.C., Lichtenbelt, K.D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., Vries, L.S. de, Sinke, R.J., Pfundt, R.P., Stevens, S.J.C., Andriessen, P., Lingen, R.A. van, Nelen, M.R., Scheffer, H., Stemkens, D., Oosterwijk, C., Ploos van Amstel, H.K., Boode, W.P. de, Zelst-Stams, W.A.G. van, Adang, E.M.M., Frederix, G.W., Vissers, L.E.L.M.

المصدر: European Journal of Pediatrics, 182, 6, pp. 2683-2692

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research Human Genetics, Radboudumc 16: Vascular damage Paediatrics, Radboudumc 18: Healthcare improvement science Health Evidence, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/293809/293809.pdfTest; https://repository.ubn.ru.nl/handle/2066/293809Test

الإتاحة: https://doi.org/10.1007/s00431-023-04909-1Test
https://repository.ubn.ru.nl//bitstream/handle/2066/293809/293809.pdfTest
https://repository.ubn.ru.nl/handle/2066/293809Test

المؤلفون: Sanden, B. van der, Schobers, G.M.G., Corominas-Galbany, J., Koolen, D.A., Sinnema, M., Reeuwijk, J. van, Stumpel, C.T., Kleefstra, T., Vries, B.B. de, Ruiterkamp-Versteeg, M., Leijsten, N., Kwint, M.P., Derks, R.C., Swinkels, H.L., Ouden, A.P.M. den, Pfundt, R.P., Rinne, T.K., Leeuw, N. de, Stegmann, A.P.A., Stevens, S.J.C., Wijngaard, A. van den, Brunner, H.G., Yntema, H.G., Gilissen, C., Nelen, M.R., Vissers, L.E.L.M.

المصدر: European Journal of Human Genetics, 31, 1, pp. 81-88

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Correlated Electron Systems / High Field Magnet Laboratory (HFML), Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, 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/2066/290609/290609.pdfTest; https://repository.ubn.ru.nl/handle/2066/290609Test

الإتاحة: https://doi.org/10.1038/s41431-022-01185-9Test
https://repository.ubn.ru.nl//bitstream/handle/2066/290609/290609.pdfTest
https://repository.ubn.ru.nl/handle/2066/290609Test

المؤلفون: Bruijn, S.E. de, Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J.A., Kremer, H., Whelan, L., Plomp, A.S., Berger, W., Farrar, G.J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R.J., Weisschuh, N., Weener, M.E., Sharon, D., Pennings, R.J.E., Haer-Wigman, L., Hoyng, C.B., Nelen, M.R., Vissers, L.E.L.M., Born, L.I. van den, Gilissen, C.F.H.A., Cremers, F.P.M., Hoischen, A., Neveling, K., Roosing, S.

المصدر: Genetics in Medicine, 25, 3

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research Human Genetics, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders Otorhinolaryngology, Radboudumc 4: lnfectious Diseases and Global Health Human Genetics, Radboudumc 4: lnfectious Diseases and Global Health Internal Medicine, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/291280/291280.pdfTest; https://repository.ubn.ru.nl/handle/2066/291280Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.11.013Test
https://repository.ubn.ru.nl//bitstream/handle/2066/291280/291280.pdfTest
https://repository.ubn.ru.nl/handle/2066/291280Test

المؤلفون: Yaldiz, B., Kucuk, E., Hampstead, J.E., Hofste, Tom, Pfundt, R.P., Corominas-Galbany, J., Rinne, T.K., Yntema, H.G., Hoischen, A., Nelen, M.R., Gilissen, C.F.H.A.

المصدر: Human Genomics, 17, 1, pp. 39

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, 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

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/292527/292527.pdfTest; https://repository.ubn.ru.nl/handle/2066/292527Test

الإتاحة: https://doi.org/10.1186/s40246-023-00485-5Test
https://repository.ubn.ru.nl//bitstream/handle/2066/292527/292527.pdfTest
https://repository.ubn.ru.nl/handle/2066/292527Test

المؤلفون: Seco, C.Z. (Celia Zazo), Wesdorp, M. (Mieke), Feenstra, I. (Ilse), Pfundt, R. (Rolph), Hehir-Kwa, J. (Jayne), Lelieveld, S.H. (Stefan H.), Castelein, S. (Steven), Gilissen, C. (Christian), Wijs, I.J. (Ilse) de, Admiraal, R.J. (Ronald), Pennings, R.J.E. (Ronald J.E.), Kunst, H.P.M. (Henricus P.M.), van de Kamp, J.M. (Jiddeke M.), Tamminga, S. (Saskia), Houweling, A.C. (Arjan), Plomp, A. (Astrid), Maas, S.M. (Saskia), de Koning Gans, P.A.M. (P. A M), Kant, S.G. (Sarina), De Geus, C.M. (Christa M.), Frints, S.G.M. (Suzanna), Vanhoutte, E.K. (Els), Dooren, M.F. (Marieke) van, Boogaard, M.H. (Marie-José Henriëtte) van den, Scheffer, H. (Hans), Nelen, M.R. (Marcel), Kremer, H. (Hannie), Hoefsloot, E.H. (Lies), Schraders, M. (Margit), Yntema, H.G.

المصدر: European Journal of Human Genetics vol. 25 no. 3, pp. 308-314

العلاقة: http://repub.eur.nl/pub/108265Test; urn:hdl:1765/108265

الإتاحة: https://doi.org/10.1038/ejhg.2016.182Test
http://repub.eur.nl/pub/108265Test

المؤلفون: Haer-Wigman, L. (Lonneke), Zelst-Stams, W.A. van, Pfundt, R. (Rolph), Born, L.I. (Ingeborgh) van den, Klaver, C.C.W. (Caroline), Verheij, J.B. (Joke), Hoyng, C.B. (Carel), Breuning, M.H. (Martijn), Boon, C.J.F. (Camiel), Kievit, A.J.A. (Anneke J.A.), Verhoeven, V.J.M. (Virginie), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Hagen, J.M. (Johanna) van, Plomp, A. (Astrid), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Hehir-Kwa, J. (Jayne), Castelein, S. (Steven), Nelen, M.R. (Marcel), Scheffer, H. (Hans), Lugtenberg, D. (Dorien), Cremers, F.P.M. (Frans), Hoefsloot, E.H. (Lies), Yntema, H.G.

المصدر: European Journal of Human Genetics vol. 25 no. 5, pp. 591-599

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/108180Test; urn:hdl:1765/108180

الإتاحة: https://doi.org/10.1038/ejhg.2017.9Test
http://repub.eur.nl/pub/108180Test

المؤلفون: Schobers, G.M.G., Schieving, J.H., Yntema, H.G., Pennings, Maartje, Pfundt, R.P., Derks, R.C., Hofste, Tom, Wijs, I.J. de, Wieskamp, N.A., Heuvel, Simone van den, Corominas-Galbany, J., Gilissen, C.F.H.A., Nelen, M.R., Brunner, H.G., Kleefstra, T., Kamsteeg, E.J., Willemsen, M.A.A.P., Vissers, L.E.L.M.

المصدر: Genome Medicine, 14, 1

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, 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/2066/251385/251385.pdfTest; https://repository.ubn.ru.nl/handle/2066/251385Test

الإتاحة: https://doi.org/10.1186/s13073-022-01069-zTest
https://repository.ubn.ru.nl//bitstream/handle/2066/251385/251385.pdfTest
https://repository.ubn.ru.nl/handle/2066/251385Test