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1Academic Journal
المؤلفون: Swen, JJ, van der Wouden, CH, Manson, LEN, Abdullah-Koolmees, H, Blagec, K, Blagus, T, Bohringer, S, Cambon-Thomsen, A, Cecchin, E, Cheung, KC, Deneer, VHM, Dupui, M, Ingelman-Sundberg, M, Jonsson, S, Joefield-Roka, C, Just, KS, Karlsson, MO, Konta, L, Koopmann, R, Kriek, M, Lehr, T, Mitropoulou, C, Rial-Sebbag, E, Rollinson, V, Roncato, R, Samwald, M, Schaeffeler, E, Skokou, M, Schwab, M, Steinberger, D, Stingl, JC, Tremmel, R, Turner, RM, van Rhenen, MH, Fajardo, CLD, Dolzan, V, Patrinos, GP, Pirmohamed, M, Sunder-Plassmann, G, Toffoli, G, Guchelaar, HJ
المصدر: Lancet (London, England). 401(10374):347-356
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: van der Wouden, CH, Bohringer, S, Cecchin, E, Cheung, KC, Davila-Fajardo, CL, Deneer, VHM, Dolzan, V, Ingelman-Sundberg, M, Jonsson, S, Karlsson, MO, Kriek, M, Mitropoulou, C, Patrinos, GP, Pirmohamed, M, Rial-Sebbag, E, Samwald, M, Schwab, M, Steinberger, D, Stingl, J, Sunder-Plassmann, G, Toffoli, G, Turner, RM, van Rhenen, MH, van Zwet, E, Swen, JJ, Guchelaar, HJ
المصدر: Pharmacogenetics and genomics. 30(6):131-144
مصطلحات موضوعية: Medicin och hälsovetenskap
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3Academic Journal
المؤلفون: Bomback AS, Daina E, Remuzzi G, Kanellis J, Kavanagh D, Pickering MC, Sunder-Plassmann G, Walker PD, Wang Z, Ahmad Z, Fakhouri F
المصدر: Kidney International Reports, 2024
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/302249; https://eprints.ncl.ac.uk/fulltext.aspx?url=302249/0EB66D61-F814-4005-9FC4-C4FF85EF7F51.pdf&pub_id=302249
الاتاحة: https://eprints.ncl.ac.uk/302249
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4Academic Journal
المؤلفون: Bomback, A.S., Daina, E., Remuzzi, G., Kanellis, J., Kavanagh, D., Pickering, M.C., Sunder-Plassmann, G., Walker, P.D., Wang, Z., Ahmad, Z., Fakhouri, F.
المصدر: Kidney international reports, vol. 10, no. 1, pp. 87-98
مصطلحات موضوعية: C3 glomerulopathy, complement, immune complex membranoproliferative glomerulonephritis, pegcetacoplan, proteinuria
Relation: info:eu-repo/semantics/altIdentifier/pmid/39810766; info:eu-repo/semantics/altIdentifier/eissn/2468-0249; https://serval.unil.ch/notice/serval:BIB_EDC19CA87D30
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5Academic Journal
المؤلفون: Tam FWK, Tumlin J, Barratt J, Rovin BH, Roberts ISD, Roufosse C, Cook HT, Bhangal G, Brown AL, Busch M, Dudhiya F, Duliege A-M, Fraser DJ, Gale DP, Huang C-C, Lai P-C, Lee M, Masuda ES, McAdoo SP, Rosenkranz AR, Sommerer C, Sunder-Plassmann G, Szeto C-C, Tang SCW, Williamson DE, Willcocks L, Vielhauer V, Kim MJ, Todd L, Zayed H, Tong-Starksen S, Lafayette R
المصدر: Kidney International Reports, 2023
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/294897; https://eprints.ncl.ac.uk/fulltext.aspx?url=294897/65B64E3C-CC17-418B-9C53-21CA0A224242.pdf&pub_id=294897
الاتاحة: https://eprints.ncl.ac.uk/294897
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6Academic Journal
المؤلفون: Hughes, Derralynn A, Bichet, D.G., Giugliani, R., Hopkin, R.J., Krusinska, E., Nicholls, K., Olivotto, I., Feldt-Rasmussen, U., Sakai, N., Skuban, N., Sunder-Plassmann, G., Torra Balcells, Roser, Wilcox, W.R., Universitat Autònoma de Barcelona
مصطلحات موضوعية: Cardiovascular Diseases, Cerebrovascular Disorders, Genetics, Medical, Mutation
وصف الملف: application/pdf
Relation: Journal of medical genetics; Vol. 60 Núm. 7 (january 2023), p. 722-731; https://ddd.uab.cat/record/301310; urn:oai:ddd.uab.cat:301310; urn:scopus_id:85148627704; urn:articleid:14686244v60n7p722; urn:pmid:36543533; urn:pmcid:PMC10359570; urn:oai:pubmedcentral.nih.gov:10359570
الاتاحة: https://ddd.uab.cat/record/301310
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7Academic Journal
المؤلفون: Tam, FWK, Tumlin, J, Barratt, J, Rovin, BH, Roberts, ISD, Roufosse, C, Cook, HT, Bhangal, G, Brown, AL, Busch, M, Dudhiya, F, Duliege, AM, Fraser, DJ, Gale, DP, Huang, CC, Lai, PC, Lee, M, Masuda, ES, McAdoo, SP, Rosenkranz, AR, Sommerer, C, Sunder-Plassmann, G, Szeto, CC, Tang, SCW, Williamson, DE, Willcocks, L, Vielhauer, V, Kim, MJ, Todd, L, Zayed, H, Tong-Starksen, S, Lafayette, R
المصدر: Kidney International Reports (2023)
مصطلحات موضوعية: glomerulonephritis, IgA nephropathy, inflammation, kidney, macrophage, signaling
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10181950/1/Gale_Randomized%20Trial%20on%20the%20Effect%20of%20an%20Oral%20Spleen%20Tyrosine%20Kinase%20Inhibitor%20in%20the%20Treatment%20of%20IgA%20Nephropathy_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10181950/
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8Academic Journal
المؤلفون: Gatterer, C., Beitzke, D., Graf, S., Lenz, M., Sunder-Plassmann, G., Mann, C., Ponleitner, M., Manka, R., Fritschi, D., Krayenbuehl, P.A., Kamm, P., Dormond, O., Barbey, F., Nowak, A.
المصدر: Life, vol. 13, no. 5, pp. 1213
مصطلحات موضوعية: Fabry disease, GLA, cardiac imaging, cardiac magnetic resonance, cardiomyopathy, chaperone, genetic disease, left ventricular hypertrophy, lysosomal storage, migalastat
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/37240859; info:eu-repo/semantics/altIdentifier/pissn/2075-1729; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_755681B65A748; https://serval.unil.ch/notice/serval:BIB_755681B65A74; https://serval.unil.ch/resource/serval:BIB_755681B65A74.P001/REF.pdf
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9Academic Journal
المؤلفون: van der Wouden, CH, Cambon-Thomsen, A, Cecchin, E, Cheung, KC, Davila-Fajardo, CL, Deneer, VH, Dolzan, V, Ingelman-Sundberg, M, Jonsson, S, Karlsson, MO, Kriek, M, Mitropoulou, C, Patrinos, GP, Pirmohamed, M, Samwald, M, Schaeffeler, E, Schwab, M, Steinberger, D, Stingl, J, Sunder-Plassmann, G, Toffoli, G, Turner, RM, Van Rhenen, M, Swen, JJ, Guchelaar, HJ
المصدر: Clinical pharmacology and therapeutics. 101(3):341-358
مصطلحات موضوعية: Medicin och hälsovetenskap
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10Academic Journal
المؤلفون: Feldt-Rasmussen, U, Hughes, D, Sunder-Plassmann, G, Shankar, S, Nedd, K, Olivotto, I, Ortiz, D, Ohashi, T, Hamazaki, T, Skuban, N, Yu, J, Barth, JA, Nicholls, K
المصدر: Molecular Genetics and Metabolism , 131 (1-2) pp. 219-228. (2020)
مصطلحات موضوعية: Lysosomal disorders, Fabry disease, Migalastat, Chaperone, Clinical trial
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10132243/1/1-s2.0-S1096719220301761-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10132243/
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11Academic Journal
المؤلفون: Gatterer, C, Beitzke, D, Bartko, P E, Schneider, M, Binder, T, Hengstenberg, C, Bergler-Klein, J, Sunder-Plassmann, G, Mundigler, G, Graf, S
المصدر: European Heart Journal - Cardiovascular Imaging ; volume 21, issue Supplement_1 ; ISSN 2047-2404 2047-2412
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12Electronic Resource
المؤلفون: Hughes, DA, Bichet, DG, Giugliani, R, Hopkin, RJ, Krusinska, E, Nicholls, K, Olivotto, I, Feldt-Rasmussen, U, Sakai, N, Skuban, N, Sunder-Plassmann, G, Torra, R, Wilcox, WR
مصطلحات الفهرس: Journal Article
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13Electronic Resource
المؤلفون: Swen, J. J., van der Wouden, C. H., Manson, L. E., Abdullah-Koolmees, H., Blagec, K., Blagus, T., Bohringer, S., Cambon-Thomsen, A., Cecchin, E., Cheung, K. -C., Deneer, V. H., Dupui, M., Ingelman-Sundberg, M., Jonsson, S., Joefield-Roka, C., Just, K. S., Karlsson, M. O., Konta, L., Koopmann, R., Kriek, M., Lehr, T., Mitropoulou, C., Rial-Sebbag, E., Rollinson, V., Roncato, R., Samwald, M., Schaeffeler, E., Skokou, M., Schwab, M., Steinberger, D., Stingl, J. C., Tremmel, R., Turner, R. M., van Rhenen, M. H., Davila Fajardo, C. L., Dolzan, V., Patrinos, G. P., Pirmohamed, M., Sunder-Plassmann, G., Toffoli, G., Guchelaar, H. -J., Buunk, A., Goossens, H., Baas, G., Algera, M., Schuil-Vlassak, E., Ambagts, T., De Hoog-Schouten, L., Musaafir, S., Bosch, R., Tjong, C., Steeman, S., Van der Plas, M., Baldew, G., Den Hollander, I., De Waal, Z., Heijn, A., Nelemans, L., Kouwen-Lubbers, K., Van Leeuwen, M., Hoogenboom, S., Van Doremalen, J., Ton, C., Beetstra, B., Meijs, V., Dikken, J., Dubero, D., Slager, M., Houben, T., Kanis, T., Overmars, W., Nijenhuis, M., Steffens, M., Bergs, I., Karamperis, K., Siamoglou, S., Ivantsik, O., Samiou, G. -C., Kordou, Z., Tsermpini, E., Ferentinos, P., Karaivazoglou, A., Rigas, G., Gerasimou, H., Voukelatou, G., Georgila, E., Tsermpini, E. E., Mendrinou, E., Chalikiopoulou, K., Kolliopoulou, A., Mitropoulos, K., Stratopoulos, A., Liopetas, I., Tsikrika, A., Barba, E., Emmanouil, G., Stamopoulou, T., Stathoulias, A., Giannopoulos, P., Kanellakis, F., Bartsakoulia, M., Katsila, T., Douzenis, A., Gourzis, F., Assimakopoulos, K., Bignucolo, A., Dal Cin, L., Comello, F., Mezzalira, S., Puglisi, F., Spina, M., Foltran, L., Guardascione, M., Buonadonna, A., Bartoletti, M., Corsetti, S., Ongaro, E., Da Ros, L., Bolzonello, S., Spazzapan, S., Freschi, A., Di Nardo, P., Palazzari, E., Navarria, F., Innocente, R., Berretta, M., D'Andrea, M., Angelini, F., Diraimo, T., Favaretto, A., Davila-Fajardo, C. L., Diaz-Villamarin, X., Martinez-Gonzalez, L. J., Antunez-Rodriguez, A., Moreno-Escobar, E., Fernandez-Gonzalez, A. E., Garcia-Navas, P., Bautista-Paves, A. B. P., Burillo-Gomez, F., Villegas-Rodriguez, I., Sanchez-Ramos, J. G., Antolinos-Perez, M. J., Rivera, R., Martinez-Huertas, S., Thomas-, J., Carazo, J. J., Yanez-Sanchez, M. I., Blancas-Lopez-Navajas, R., Garcia-Orta, B., Gonzalez-Astorga, C. J., Rodriguez-Gonzalez, F. J., Ruiz-Carazo, M., Lopez-Perez, I., Cano-Herrera, R., Herrera, T., Gil-Jimenez, Delgado-Urena, M. T., Trivino-Juarez, J. M., Campos-Velazquez, S., Alcantara-Espadafor, S., Moreno Aguilar, M. R., Ontiveros-Ortega, M. C., Carnerero-Cordoba, L., Guerrero-Jimenez, M., Legeren-Alvarez, M., Yelamos-Vargas, M., Castillo-Perez, I., Aomar-Millan, I., Anguita-Romero, M., Sanchez-Garcia, M. J., Sequero-Lopez, S., Faro-Miguez, N., Lopez-Fernandez, S., Leyva-Ferrer, R. N., Herrera-Gomez, N., Pertejo-Manzano, L., Perez-Gutierrez, E. M., Martin-de la Higuera, A. J., Plaza-Carrera, J., Baena-Garzon, F., Toledo-Frias, P., Cruz-Valero, I., Chacon-McWeeny, V., Gallardo-Sanchez, I., Arrebola, A., Guillen-Zafra, L., Ceballos-Torres, A., Guardia-Mancilla, P., Guirao-Arrabal, E., Canterero-Hinojosa, J., Velasco-Fuentes, S., Sanchez-Cano, D., Aguilar-Jaldo, M. D. P., Caballero-Borrego, J., Praznik, M., Slapsak, U., Voncina, B., Rajter, B., Skrinjar, A., Marjetic Ulcakar, A., Zidansek, A., Stegne Ignjatvic, T., Mazej Poredos, B., Vivod Pecnik, Z., Poplas Susic, T., Jutersek, M., Klen, J., Skoporc, J., Kotar, T., Petek Ster, M., Zvezdana Dernovsk, M., Mlinsek, G., Miklavcic, P., Plemenitas Iljes, A., Grasic Kuhar, C., Oblak, I., Strazisar, B., Strbac, D., Matos, E., Mencinger, M., Vrbnjak, M., Saje, M., Radovanovic, M., Jeras, K., Bukovec, L., Terzic, T., Minichmayr, I., Nanah, A., Nielsen, E., Zou, Y., Lauschke, V., Johansson, I., Zhou, Y., Nordling, A., Aigner, C., Dames-Ludwig, M., Monteforte, R., Sunder-Plassmann, R., Steinhauser, C., Sengoelge, G., Winnicki, W., Schmidt, A., Vasileios, F., Fontana, V., Hanson, A., Little, M., Hornby, R., Dello Russo, Cinzia, French, S., Hampson, J., Gumustekin, M., Anyfantis, G., Hampson, L., Lewis, D., Westhead, R., Prince, C., Rajasingam, A., Dello Russo C. (ORCID:0000-0002-2538-3832)
مصطلحات الفهرس: pharmacogenetic testing, adverse drug reactions, Settore BIO/14 - FARMACOLOGIA, info:eu-repo/semantics/article
URL:
https://hdl.handle.net/10807/225847
info:eu-repo/semantics/altIdentifier/pmid/36739136
info:eu-repo/semantics/altIdentifier/wos/WOS:000970309800001
volume:401
issue:10374
firstpage:347
lastpage:356
numberofpages:10
issueyear:2023
journal:THE LANCET -
14Academic Journal
المؤلفون: Hughes, Derralynn A., Nicholls, Kathleen M., Sunder-Plassmann, G., Jovanovic, Ana, Feldt-Rasmussen, Ulla, Schiffmann, Raphael, Giugliani, Roberto, Jain, Vipul, Viereck, Christopher, Castelli, Jeffrey P., Skuban, Nina, Barth, Jay, Bichet, Daniel G.
مصطلحات موضوعية: Terapia de reposição de enzimas, Tratamento farmacológico, Substituição de medicamentos, Doença de Fabry, Estudo clínico
وصف الملف: application/pdf
Relation: American journal of medical genetics. Part A. Hoboken, N.J. : Wiley-Blackwell. Vol. 179A (2019), p. 1069–1073; http://hdl.handle.net/10183/200996; 001104115
الاتاحة: http://hdl.handle.net/10183/200996
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15Academic Journal
المؤلفون: Hughes, DA, Nicholls, K, Sunder-Plassmann, G, Jovanovic, A, Feldt-Rasmussen, U, Schiffmann, R, Giugliani, R, Jain, V, Viereck, C, Castelli, JP, Skuban, N, Barth, JA, Bichet, DG
المصدر: American Journal of Medical Genetics: Part A (2019) (In press).
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10071991/1/Hughes_et_al-2019-American_Journal_of_Medical_Genetics_Part_A.pdf; https://discovery.ucl.ac.uk/id/eprint/10071991/
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16Academic Journal
المؤلفون: Hughes, DA, Nicholls, K, Shankar, SP, Sunder-Plassmann, G, Koeller, D, Nedd, K, Vockley, G, Hamazaki, T, Lachmann, R, Ohashi, T, Olivotto, I, Sakai, N, Deegan, P, Dimmock, D, Eyskens, F, Germain, DP, Goker-Alpan, O, Hachulla, E, Jovanovic, A, Lourenco, CM, Narita, I, Thomas, M, Wilcox, WR, Bichet, DG, Schiffmann, R, Ludington, E, Viereck, C, Kirk, J, Yu, J, Johnson, F, Boudes, P, Benjamin, ER, Lockhart, DJ, Barlow, C, Skuban, N, Castelli, JP, Barth, J, Feldt-Rasmussen, U
المصدر: Journal of Medical Genetics , 54 (4) pp. 288-296. (2017)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1529639/1/Hughes_288.full.pdf; https://discovery.ucl.ac.uk/id/eprint/1529639/
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17Academic Journal
المؤلفون: van der Wouden, CH, Cambon‐Thomsen, A, Cecchin, E, Cheung, KC, Dávila‐Fajardo, CL, Deneer, VH, Dolžan, V, Ingelman‐Sundberg, M, Jönsson, S, Karlsson, MO, Kriek, M, Mitropoulou, C, Patrinos, GP, Pirmohamed, M, Samwald, M, Schaeffeler, E, Schwab, M, Steinberger, D, Stingl, J, Sunder‐Plassmann, G, Toffoli, G, Turner, RM, van Rhenen, MH, Swen, JJ, Guchelaar, H‐J
المصدر: Clinical Pharmacology & Therapeutics ; volume 102, issue 1, page 152-152 ; ISSN 0009-9236 1532-6535
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18Academic Journal
المؤلفون: Blagec, K., Swen, J.J., Koopmann, R., Cheung, K.C., Crommentuijn-van Rhenen, M., Holsappel, I., Konta, L., Ott, S., Steinberger, D., Xu, H., Cecchin, E., Dolzan, V., Davila-Fajardo, C.L., Patrinos, G.P., Sunder-Plassmann, G., Turner, R.M., Pirmohamed, M., Guchelaar, H.J., Samwald, M., Ubiquitous Pharmacogenomics Consortium
المصدر: PLoS ONE
وصف الملف: application/pdf
Relation: lumc-id: 174597639; https://hdl.handle.net/1887/3458838
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19Academic Journal
المؤلفون: Gaggl, Martina, Aigner, C., Sunder-Plassmann, G., Schmidt, A.
مصطلحات موضوعية: Hämolytisch-urämisches Syndrom, Hämolyse, Thrombopenie, Komplementproteine, Thrombotisch-thrombozytopenische Purpura, Hemolytic–uremic syndrome, Hemolysis, Thrombocytopenia, Complement proteins, Thrombotic thrombocytopenic purpura
جغرافية الموضوع: UMW:14572
وصف الملف: text/html
Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-2046/128; urn:nbn:at:at-ubmuw:3-2046; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-2046; local:99144908512503331; system:AC15322109
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20Academic Journal
المؤلفون: Biegstraaten, M., Arngrímsson, R., Barbey, F., Boks, L., Cecchi, F., Deegan, P.B., Feldt-Rasmussen, U., Geberhiwot, T., Germain, D.P., Hendriksz, C., Hughes, D.A., Kantola, I., Karabul, N., Lavery, C., Linthorst, G.E., Mehta, A., van de Mheen, E., Oliveira, J.P., Parini, R., Ramaswami, U., Rudnicki, M., Serra, A., Sommer, C., Sunder-Plassmann, G., Svarstad, E., Sweeb, A., Terryn, W., Tylki-Szymanska, A., Tøndel, C., Vujkovac, B., Weidemann, F., Wijburg, F.A., Woolfson, P., Hollak, C.E.
المصدر: Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 36
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/25885911; info:eu-repo/semantics/altIdentifier/eissn/1750-1172; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C8A8921BAB456; https://serval.unil.ch/notice/serval:BIB_C8A8921BAB45; https://serval.unil.ch/resource/serval:BIB_C8A8921BAB45.P001/REF.pdf