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1دورية أكاديمية
المؤلفون: Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., Hollak, C.E.M.
المساهمون: The Netherlands Organisation for Health Research and Development
المصدر: Blood Cells, Molecules, and Diseases ; volume 68, page 203-208 ; ISSN 1079-9796
مصطلحات موضوعية: Cell Biology, Hematology, Molecular Biology, Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.bcmd.2016.10.008Test
https://api.elsevier.com/content/article/PII:S1079979616301917?httpAccept=text/xmlTest
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2دورية أكاديمية
المؤلفون: Hübschmann, O. Kuseyri, Horvath, G., Cortès-Saladelafont, E., Yildiz, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S.N., Pearson, T.S., Zafeiriou, D.I., Kulhánek, J., Kurian, Manju A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H.S., Leuzzi, V., Hoffmann, G.F., Jeltsch, K., Hübschmann, D., Garbade, S.F., Verbeek, M.M., García-Cazorla, A., Opladen, T.
المصدر: Nature Communications, 12, 1
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/238541/238541.pdfTest; https://repository.ubn.ru.nl/handle/2066/238541Test
الإتاحة: https://doi.org/10.1038/s41467-021-25515-5Test
https://repository.ubn.ru.nl//bitstream/handle/2066/238541/238541.pdfTest
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6دورية أكاديمية
المؤلفون: Willemsen, M.A. (Michél), Verbeek, M.M. (Marcel), Kamsteeg, E.J. (Erik-Jan), Rijk-Van Andel, J.F. (Johanneke) de, Aeby, A. (Alec), Blau, N. (Nenad), Burlina, A.B. (Alberto), Donati, M.A. (Maria), Geurtz, B. (Ben), Grattan-Smith, P.J. (Padraic), Haeussler, M. (Martin), Hoffmann, G.F. (Georg), Jung, H. (Hans), Klerk, J.B.C. (Johannes) de, Knaap, M.S. (Marjo) van der, Kok, F. (Fernando), Leuzzi, V. (Vincenzo), Lonlay, P. (Pascale) de, Megarbane, A. (Andre), Monaghan, H. (Hugh), Renier, W.O. (Willy), Rondot, P. (Pierre), Ryan, M.M. (Monique), Seeger, J. (Jürgen), Smeitink, J.A.M. (Jan), Steenbergen-Spanjers, G.C. (Gerry), Wassmer, E. (Evangeline), Weschke, B. (Bernhard), Wijburg, F.A. (Frits), Wilcken, B. (Bridget), Zafeiriou, D.I. (Dimitrios), Wevers, R.A. (Ron)
المصدر: Brain: a journal of neurology vol. 133 no. 6, pp. 1810-1822
مصطلحات موضوعية: Cerebrospinal fluid, Dystonia, L-dopa, Neurotransmitters, Tyrosine hydroxylase
العلاقة: http://repub.eur.nl/pub/27454Test; urn:hdl:1765/27454
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7دورية أكاديمية
المؤلفون: Chinopoulos, Christos, Batzios, Spyros, Heuvel, L.P.W.J. van den, Rodenburg, R.J.T., Smeets, R.J., Waterham, H.R., Wevers, R.A., Zafeiriou, D.I.
المصدر: Molecular Genetics and Metabolism, 126, 1, pp. 43-52
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 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
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8دورية أكاديمية
المؤلفون: Kalyva, E., Kyriazi, M., Vargiami, E., Dragoumi, P., Zafeiriou, D.I.
المصدر: European Journal of Paediatric Neurology ; volume 21, page e171 ; ISSN 1090-3798
مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.ejpn.2017.04.1158Test
https://api.elsevier.com/content/article/PII:S1090379817314174?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379817314174?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Kalyva, E., Kyriazi, M., Vargiami, E., Zafeiriou, D.I.
المصدر: European Journal of Paediatric Neurology ; volume 19, page S91 ; ISSN 1090-3798
مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/s1090-3798Test(15)30303-2
https://api.elsevier.com/content/article/PII:S1090379815303032?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379815303032?httpAccept=text/plainTest -
10دورية أكاديميةAn Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study
المؤلفون: Steenweg, M.E., Jakobs, C., Errami, A., van Dooren, S.J.M., Bartolome, M.T.A., Aerssens, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J.T.R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M.D., de Klerk, H.B.C., Korman, S.H., Lee, C., Lund, A.M., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M.L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F.K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D.I., Spreeuwenberg, M.D., Celli, J., den Dunnen, J.T., van der Knaap, M.S., Salomons, G.S.
المصدر: Steenweg , M E , Jakobs , C , Errami , A , van Dooren , S J M , Bartolome , M T A , Aerssens , P , Baric , I , Baumann , M , Bonafe , L , Chabrol , B , Clarke , J T R , Clayton , P , Coker , M , Cooper , S , Falik-Zaccai , T , Gorman , M , Hahn , A , Hasanoglu , A , King , M D , de Klerk , H B C , Korman , S H , Lee , ....
الإتاحة: https://doi.org/10.1002/humu.21197Test
https://research.vumc.nl/en/publications/ee35a990-25ce-44f9-80f5-8d5014bae703Test