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1دورية أكاديمية
المؤلفون: Reilly, A.M., Cooper, R.I., Adjiman, C.S., Bhattacharya, S., Boese, D.A., Brandenburg, J.G., Bygrave, P.J., Bylsma, R., Campbell, J.E., Car, R., Case, D.H., Chadha, R., Cole, J.C., Cosburn, K., Cuppen, H.M., Curtis, F., Day, G.M., DiStasio, R.A. Jr, Dzyabchenko, A., van Eijck, B.P., Elking, D.M., van den Ende, J.A., Facelli, J.C., Ferraro, M.B., Fusti-Molnar, L., Gatsiou, C-A., Gee, T.S., de Gelder, R., Ghiringhelli, L.M., Goto, H., Grimme, S., Guo, R., Hofmann, D.W.M., Hoja, J., Hylton, R.K., Iuzzolino, L., Jankiewicz, W., de Jong, D.T., Kendrick, John, de Klerk, N.J.J., Ko, H-Y., Kuleshova, L.N., Li, X., Lohani, S., Leusen, Frank J.J., Lund, A.M., Lv, J., Ma, Y., Marom, N., Masunov, A.E., McCabe, P., McMahon, D.P., Meekes, H., Metz, M.P., Misquitta, A.J., Mohamed, S., Monserrat, B., Needs, R.J., Neumann, M.A., Nyman, J., Obata, S., Oberhofer, H., Oganov, A.R., Orendt, A.M., Pagola, G.I., Pantelides, C.C., Pickard, C.J., Podeszwa, R., Price, L.S., Price, S.L., Pulido, A., Read, M.G., Reuter, K., Schneider, E., Schober, C., Shields, G.P., Singh, P., Sugden, I.J., Szalewicz, K., Taylor, C.R., Tkatchenko, A., Tuckerman, M.E., Vacarro, F., Vasileiadis, M., Vazquez-Mayagoitia, A., Vogt, L., Wang, Y., Watson, R.E., de Wijs, G.A., Yang, J., Zhu, Q., Groom, C.R.
مصطلحات موضوعية: Organic crystal-structure prediction (CSP) methods, Blind test
الإتاحة: http://hdl.handle.net/10454/8580Test
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2دورية أكاديمية
المؤلفون: Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), Djordjevic, M. (Maja)
المصدر: Scientific Reports vol. 10 no. 1
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/129092Test; urn:hdl:1765/129092
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3دورية أكاديمية
المؤلفون: Heard, J.M., Vrinten, C., Schlander, M., Bellettato, C.M., van Lingen, C., Scarpa, M., Matthijs, G., Nassogne, M.C., Debray, F.G., Roland, D., Chamova, T., Kozich, V., Pavel, J., Zenker, M., Lampe, C., Das, A.M., Hennermann, J., Kolker, S., Weinhold, N., Mohnike, K., Gruenert, S., Lund, A.M., Morales-Conejo, M., del Toro-Riera, M., Aldamiz-Echevarria, L., Garcia-Silva, M.T., Schiff, M., Gouya, L., Labrune, P., de Lonlay, P., Belmatoug, N., Germain, D.P., Cano, A., Dobbelaere, D., Jones, S., Dawson, C., Deegan, P., Santra, S., Vijay, S., Ramadza, D.P., Baric, I., Zigman, T., Pflieger, G., Szakszon, K., Kaposta, R., Gasperini, S., Burlina, A., Parenti, G., Strisciuglio, P., Ceccarini, G., Rubio Gozalbo, Maria Estela
المصدر: Heard , J M , Vrinten , C , Schlander , M , Bellettato , C M , van Lingen , C , Scarpa , M , Matthijs , G , Nassogne , M C , Debray , F G , Roland , D , Chamova , T , Kozich , V , Pavel , J , Zenker , M , Lampe , C , Das , A M , Hennermann , J , Kolker , S , Weinhold , N , Mohnike , K , Gruenert , S , Lund , A M , Morales-Conejo , M , ....
مصطلحات موضوعية: access to treatment, drugs, european reference network, hereditary metabolic diseases, inborn errors of metabolism, orphan medicinal product
الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
https://cris.maastrichtuniversity.nl/en/publications/0852675a-f4dc-4809-8428-4474e91cbde8Test -
4دورية أكاديمية
المؤلفون: Guffon, N., Tylki-Szymanska, A., Borgwardt, L., Lund, A.M., Gil-Campos, M., Parini, R., Hennermann, J.B.
المساهمون: Chiesi Farmaceutici
المصدر: Molecular Genetics and Metabolism ; volume 126, issue 4, page 470-474 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2019.01.024Test
https://api.elsevier.com/content/article/PII:S1096719218307017?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719218307017?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Borgwardt, L., Guffon, N. (Nathalie), Amraoui, Y., Dali, C.I., Meirleir, L. (Linda) de, Gil-Campos, M., Heron, B., Geraci, S, Ardigò, D., Cattaneo, F., Fogh, J., Hout, J.M.P. (Johanna) van den, Beck, M. (Markus), Jones, S.A. (Simon), Tylki-Szymanska, A., Haugsted, U., Lund, A.M. (Allan)
المصدر: Journal of Inherited Metabolic Disease vol. 41 no. 6, pp. 1215-1223
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/128341Test; urn:hdl:1765/128341
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6دورية أكاديمية
المؤلفون: Lund, A.M. (Allan), Borgwardt, L., Cattaneo, F., Ardigò, D., Geraci, S, Gil-Campos, M., Meirleir, L. (Linda) de, Laroche, C., Dolhem, P., Cole, D, Tylki-Szymanska, A., Lopez-Rodriguez, M., Guillén-Navarro, E., Dali, C.I., Héron, B., Fogh, J., Muschol, N., Phillips, D.E. (David E), Hout, J.M.P. (Johanna) van den, Jones, S.A. (Simon), Amraoui, Y., Harmatz, P., Guffon, N. (Nathalie)
المصدر: Journal of Inherited Metabolic Disease vol. 41 no. 6, pp. 1225-1233
مصطلحات موضوعية: Alpha-mannosidosis . Recombinant human alpha-mannosidase . Lysosomal storage disorder . Enzyme replacement therapy . Velmanase alfa . Integrated analysis
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/128307Test; urn:hdl:1765/128307
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7دورية أكاديمية
المؤلفون: Heringer, J. (Jana), Valayannopoulos, V. (Vassili), Lund, A.M. (Allan), Wijburg, F.A. (Frits), Freisinger, P. (Peter), Barić, I. (Ivo), Baumgartner, M.R. (Matthias), Burgard, P. (Peter), Burlina, A.B. (Alberto), Chapman, K. (Kimberly), Cortès i Saladelafont, E. (Elisenda), Karall, D. (Daniela), Mühlhausen, C. (Chris), Riches, V. (Victoria), Schiff, M. (Manuel), Sykut-Cegielska, J. (Jolanta), Walter, J.H. (John), Zeman, J. (Jiri), Chabrol, B. (Brigitte), Kölker, S. (Stefan)
المصدر: Journal of Inherited Metabolic Disease, pp. 1-2
العلاقة: http://repub.eur.nl/pub/103472Test; urn:hdl:1765/103472
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8دورية أكاديمية
المؤلفون: Effraimidis G., Rasmussen Å.K., Dunoe M., Hasholt L.F., Wibrand F., Sorensen S.S., Lund A.M., Kober L., Bundgaard H., Yazdanfard P.D.W., Oturai P., Larsen V.A., de Abreu V.H.F., Enevoldsen L.H., Kristensen T., Svenstrup K., Bille M.B., Arif F., Mogensen M., Klokker M., Backer V., Kistorp C., Feldt-Rasmussen U.
المصدر: PLoS ONE ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85142175896&doi=10.1371%2fjournal.pone.0277767&partnerID=40&md5=2ba55938b7ec7812f4bf0cfccded0479Test
مصطلحات موضوعية: alpha galactosidase, Denmark, Fabry disease, female, genetic screening, genetics, genotype, human, male, middle aged, mutation, alpha-Galactosidase, Genetic Testing, Humans, Public Library of Science
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9دورية أكاديمية
المؤلفون: Yverneau, M., Leroux, S., Imbard, A., Gleich, F., Arion, A., Moreau, C., Nassogne, M.C., Szymanowski, M., Tardieu, M., Touati, G., Bueno, M., Chapman, K.A., Chien, Y.H., Huemer, M., Ješina, P., Janssen, M.C.H., Kölker, S., Kožich, V., Lavigne, C., Lund, A.M., Mochel, F., Morris, A., Pons, M.R., Porras-Hurtado, G.L., Benoist, J.F., Damaj, L., Schiff, M.
المصدر: Journal of Inherited Metabolic Disease, 45, 4, pp. 848-861
مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
العلاقة: https://repository.ubn.ru.nl/handle/2066/286882Test; http://dx.doi.org/10.1002/jimd.12504Test
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10دورية أكاديمية
المؤلفون: MacDonald, A., van Rijn, M., Feillet, F., Lund, A.M., Bernstein, L., Bosch, A.M., Gizewska, M., van Spronsen, F.J.
المصدر: Annals of Nutrition & Metabolism, 2012 Jan 01. 61(4), 289-295.
الوصول الحر: https://www.jstor.org/stable/48514621Test
النص الكامل