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1دورية أكاديمية
المؤلفون: Verhoeven, J.I., Kramer, Jasper, Seeger, J., Molenaar, J.P., Braakman, H.M.H., Kamsteeg, E.J., Rodenburg, R.J.T., Kusters, B., Koudijs, S., Engelen, B.G.M. van, Erasmus, C.E., Voermans, N.C.
المصدر: Neurology, 102, 5, pp. e209164
مصطلحات موضوعية: Radboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience, 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 Human Genetics, Radboudumc 6: Metabolic Disorders Paediatrics
الإتاحة: https://doi.org/10.1212/WNL.0000000000209164Test
https://repository.ubn.ru.nl/handle/2066/304798Test -
2دورية أكاديمية
المؤلفون: Abu Hanna, Firas, Zehavi, Yoav, Cohen-Barak, Eran, Khayat, Morad, Warwar, Nasim, Shreter, Roni, Rodenburg, R.J.T., Spiegel, R.
المصدر: Orphanet Journal of Rare Diseases, 19, 1, pp. 92
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 6: Metabolic Disorders Paediatrics
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/304219/304219.pdfTest; https://repository.ubn.ru.nl/handle/2066/304219Test
الإتاحة: https://doi.org/10.1186/s13023-024-03094-0Test
https://repository.ubn.ru.nl//bitstream/handle/2066/304219/304219.pdfTest
https://repository.ubn.ru.nl/handle/2066/304219Test -
3دورية أكاديمية
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 -
4دورية أكاديمية
المؤلفون: Gusic, M., Schottmann, G., Feichtinger, R.G., Du, C., Scholz, C., Wagner, M., Mayr, J.A., Lee, C.Y., Yépez, V.A., Lorenz, N., Morales-Gonzalez, S., Panneman, D.M., Rötig, A., Rodenburg, R.J.T., Wortmann, S.B., Prokisch, H., Schuelke, M.
المصدر: Am. J. Hum. Genet. 106, 102-111 (2020)
مصطلحات موضوعية: Alopecia, Cardiomyopathy, Microscale Respiratory, Mitochondrial Complex Iii Deficiency, Mitochondrial Import Sequence, Mitochondriopathy, Mutation, Q-cycle, Rieske Iron-sulfur Protein
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000505170800008; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/altIdentifier/pissn/0002-9297; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57737Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.12.005Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57737Test -
5دورية أكاديمية
المؤلفون: Allard, N.A.E., Janssen, L., Lagerwaard, B., Nuijten, M.A.H., Bongers, C.C.W.G., Rodenburg, R.J.T., Thompson, P.D., Eijsvogels, T.M.H., Assendelft, W.J.J., Schirris, T.J.J., Timmers, S., Hopman, M.T.E.
المصدر: Journal of the American College of Cardiology, 81, 14, pp. 1353-1364
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 16: Vascular damage Physiology, Radboudumc 18: Healthcare improvement science 18-Primary and Community Care, Radboudumc 6: Metabolic Disorders Haematology, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 6: Metabolic Disorders Laboratory Medicine, Radboudumc 6: Metabolic Disorders Paediatrics, Radboudumc 6: Metabolic Disorders Pharmacology-Toxicology, Radboudumc 6: Metabolic Disorders Physiology, Radboudumc 6: Metabolic Disorders Primary and Community Care, Radboudumc 18: Healthcare improvement science Primary and Community Care
الإتاحة: https://doi.org/10.1016/j.jacc.2023.01.043Test
https://repository.ubn.ru.nl/handle/2066/291737Test -
6دورية 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 -
7دورية أكاديمية
المؤلفون: Strien, J.P.M. van, Evers, F.E., Lutikurti, M., Berendsen, S.L., Garanto, A., Gemert, G.J. van, Cabrera Orefice, A., Rodenburg, R.J.T., Brandt, U., Kooij, T.W.A., Huynen, M.A.
المصدر: Plos Computational Biology, 19, 8, pp. e1011090
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, 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/2066/295815/295815.pdfTest; https://repository.ubn.ru.nl/handle/2066/295815Test
الإتاحة: https://doi.org/10.1371/journal.pcbi.1011090Test
https://repository.ubn.ru.nl//bitstream/handle/2066/295815/295815.pdfTest
https://repository.ubn.ru.nl/handle/2066/295815Test -
8دورية أكاديمية
المؤلفون: Reijnders, M.R.F., Seibt, A., Brugger, M., Lamers, I.J.C., Ott, T., Klaas, O., Horváth, J., Rose, A.M.S., Craghill, I.M., Brunet, T., Graf, E., Mayerhanser, K., Hellebrekers, D., Pauck, D., Neuen-Jacob, E., Rodenburg, R.J.T., Wieczorek, D., Klee, D., Mayatepek, E., Driessen, G., Bindermann, R., Averdunk, L., Lohmeier, K., Sinnema, M., Stegmann, A.P.A., Roepman, R., Poulter, J.A., Distelmaier, F.
المصدر: Genetics in Medicine, 25, 7, pp. 100838
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/294778/294778.pdfTest; https://repository.ubn.ru.nl/handle/2066/294778Test
الإتاحة: https://doi.org/10.1016/j.gim.2023.100838Test
https://repository.ubn.ru.nl//bitstream/handle/2066/294778/294778.pdfTest
https://repository.ubn.ru.nl/handle/2066/294778Test -
9دورية أكاديمية
المؤلفون: Conte, F., Ashikov, A.M., Mijdam, R., Ven, E.G.P. van de, Scherpenzeel, M. van, Veizaj, R., Mahalleh-Yousefi, S.P., Post, M.A., Huijben, Karin, Panneman, D.M., Rodenburg, R.J.T., Voermans, N.C., Garanto, A., Koopman, W.J.H., Wessels, H.J.C.T., Noga, M.J., Lefeber, D.J.
المصدر: International Journal of Molecular Sciences, 24, 9, pp. 8247
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/292737/292737.pdfTest; https://repository.ubn.ru.nl/handle/2066/292737Test
الإتاحة: https://doi.org/10.3390/ijms24098247Test
https://repository.ubn.ru.nl//bitstream/handle/2066/292737/292737.pdfTest
https://repository.ubn.ru.nl/handle/2066/292737Test -
10دورية أكاديمية
المؤلفون: Viering, D.H., Schlingmann, K.P., Hureaux, M., Nijenhuis, T., Mallett, A., Chan, M.M., Beek, Andre van, Eerde, A.M. van, Coulibaly, J.M., Vallet, M., Decramer, S., Pelletier, S., Klaus, G., Kömhoff, M., Beetz, R., Patel, C., Shenoy, M., Steenbergen, E.J., Anderson, G., Bongers, E.M.H.F., Bergmann, C., Panneman, D., Rodenburg, R.J.T., Kleta, R., Houillier, P., Konrad, M., Vargas-Poussou, R., Knoers, N.V.A.M., Bockenhauer, D., Baaij, J.H.F. de
المصدر: Journal of the American Society of Nephrology, 33, 2, pp. 305-325
مصطلحات موضوعية: Radboudumc 11: Renal disorders 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
الإتاحة: https://doi.org/10.1681/ASN.2021050596Test
https://repository.ubn.ru.nl/handle/2066/248375Test