-
1دورية أكاديمية
المؤلفون: Rujano, M., Cannata Serio, M., Panasyuk, G., Péanne, R., Reunert, J., Rymen, D., Hauser, V., Park, J., Freisinger, P., Souche, E., Guida, M., Maier, E., Wada, Y., Jäger, S., Krogan, N., Kretz, O., Nobre, S., Garcia, P., Quelhas, D., Bird, T., Raskind, W., Schwake, M., Duvet, S., Foulquier, F., Matthijs, G., Marquardt, T., Simons, M.
العلاقة: info:eu-repo/grantAgreement/FCT/5876/147383/PT; http://jem.rupress.org/content/214/12/3707.longTest; J Exp Med. 2017 Dec 4;214(12):3707-3729; http://hdl.handle.net/10400.16/2228Test
-
2دورية أكاديمية
المؤلفون: Rymen, D, Peanne, R, Millón, MB, Race, V, Sturiale, L, Garozzo, D, Mills, P, Clayton, P, Asteggiano, CG, Quelhas, D, Cansu, A, Martins, E, Nassogne, MC, Gonçalves-Rocha, M, Topaloglu, H, Jaeken, J, Foulquier, F, Matthijs, G
المصدر: PLoS Genetics , 9 (12) , Article e1003989. (2013)
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1421754/1/journal.pgen.1003989.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1421754Test/
-
3دورية أكاديمية
المؤلفون: Rymen, D., Peanne, R., Millón, M., Race, V., Sturiale, L., Garozzo, D., Mills, P., Clayton, P., Asteggiano, C., Quelhas, D., Cansu, A., Martins, E., Nassogne, M., Gonc¸alves-Rocha, M., Topaloglu, H., Jaeken, J., Foulquier, F., Matthijs, G.
العلاقة: http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003989Test; MAN1B1 Deficiency: An Unexpected CDG-II. PLoS Genet 9(12): e1003989. doi:10.1371/journal.pgen.1003989; http://hdl.handle.net/10400.16/1695Test
-
4دورية أكاديمية
المؤلفون: Altassan, R., Peanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., Morena-Barrio, M.E. de la, Lonlay, P. de, Reis, V. Dos, Ferreira, C.R., Fiumara, A., Francisco, R., Freeze, H., Funke, S., Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grunewald, S., Hernandez-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D.J., Marques-de-Silva, D., Martinez, A.F., Moravej, H., Ounap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczynska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C, Tort, F., Vals, M.A., Videira, P., Witters, P., Zeevaert, R., Morava, E.
المصدر: Journal of Inherited Metabolic Disease, 42, 1, pp. 5-28
مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
-
5دورية أكاديمية
المؤلفون: Peanne, R., Lonlay, P. de, Foulquier, F., Kornak, U., Lefeber, D.J., Morava, E., Perez, B., Seta, N., Thiel, C, Schaftingen, E. van, Matthijs, G., Jaeken, J.
المصدر: European Journal of Medical Genetics, 61, 11, pp. 643-663
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/200012/200012.pdfTest; http://hdl.handle.net/2066/200012Test
الإتاحة: https://doi.org/10.1016/j.ejmg.2017.10.012Test
http://hdl.handle.net/2066/200012Test
https://repository.ubn.ru.nl//bitstream/handle/2066/200012/200012.pdfTest -
6مؤتمر
المؤلفون: Peanne, R, Regal, L, Vleugels, Wendy, Race, Valérie, Foulquier, F, Keldermans, Liesbeth, Jansen, K, De Meirleir, L, Matthijs, Gert, Jaeken, J
العلاقة: Proceedings pages:45; 4th International Meeting on Congenital Disorders of Glycosylation location:Leuven, Belgium date:13-14 January 2011; https://lirias.kuleuven.be/handle/123456789/341477Test
-
7دورية أكاديمية
المؤلفون: van Scherpenzeel, M., Timal, S., Rymen, D., Hoischen, A., Wuhrer, M., Hipgrave-Ederveen, A., Grunewald, S., Peanne, R., Saada, A., Edvardson, S., Grønborg, S., Ruijter, G., Kattentidt-Mouravieva, A., Brum, J.M., Freckmann, M.L., Tomkins, S., Jalan, A., Prochazkova, D., Ondruskova, N., Hansikova, H., Willemsen, M.A., Hensbergen, P, Matthijs, G., Wevers, R.A., Veltman, J.A., Morava, E., Lefeber, D.J.
المصدر: van Scherpenzeel , M , Timal , S , Rymen , D , Hoischen , A , Wuhrer , M , Hipgrave-Ederveen , A , Grunewald , S , Peanne , R , Saada , A , Edvardson , S , Grønborg , S , Ruijter , G , Kattentidt-Mouravieva , A , Brum , J M , Freckmann , M L , Tomkins , S , Jalan , A , Prochazkova , D , Ondruskova , N , Hansikova , H , Willemsen , M A , Hensbergen , P , Matthijs , G , Wevers , R ....
الإتاحة: https://doi.org/10.1093/brain/awu019Test
https://research.vu.nl/en/publications/6f4a7d2b-952c-428f-b823-06f6f3d77796Test
https://hdl.handle.net/1871.1/6f4a7d2b-952c-428f-b823-06f6f3d77796Test -
8دورية أكاديمية
المؤلفون: Scherpenzeel, M. van, Timal-Stevenson, S., Rymen, D., Hoischen, A., Wuhrer, M., Hipgrave-Ederveen, A., Grunewald, S., Peanne, R., Saada, A., Edvardson, S., Gronborg, S., Ruijter, G., Kattentidt-Mouravieva, A., Brum, J.M., Freckmann, M.L., Tomkins, S., Jalan, A., Prochazkova, D., Ondruskova, N., Hansikova, H., Willemsen, M.A., Hensbergen, P.J., Matthijs, G., Wevers, R.A., Veltman, J.A., Morava, E., Lefeber, D.J.
المصدر: Brain, 137, Pt 4, pp. 1030-8
مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences
النص الكامل