المؤلفون: Hughes, D, Gonzalez, D, Maegawa, G, Bernat, JA, Holida, M, Giraldo, P, Atta, MG, Chertkoff, R, Alon, S, Almon, EB, Rocco, R, Goker-Alpan, O

المصدر: Genetics in Medicine , 25 (12) , Article 100968. (2023) (In press).

مصطلحات موضوعية: Fabry disease, anti-drug antibodies, enzyme replacement therapy, estimated glomerular filtration rate, globotriaosylsphingosine, immunogenicity, long-term, pegunigalsidase alfa, safety

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181024/1/1-s2.0-S109836002300984X-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181024Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181024/1/1-s2.0-S109836002300984X-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181024Test/

المؤلفون: Nisselle, A, Janinski, M, Martyn, M, McClaren, B, Kaunein, N, Maguire, J, Riggs, ER, Barlow-Stewart, K, Belcher, A, Bernat, JA, Best, S, Bishop, M, Carroll, JC, Cornel, M, Dissanayake, VHW, Dodds, A, Dunlop, K, Garg, G, Gear, R, Graves, D, Knight, K, Korf, B, Kumar, D, Laurino, M, Ma, A, Mallett, A, McCarthy, M, McEwen, A, Mulder, N, Patel, C, Quinlan, C, Reed, K, Sinnerbrink, I, Slavotinek, A, Suppiah, V, Terrill, B, Tobias, ES, Tonkin, E, Trumble, S, Wessels, TM, Metcalfe, S, Jordan, H, Gaff, C

المصدر: urn:ISSN:1098-3600 ; urn:ISSN:1530-0366 ; Genetics in Medicine, 23, 7, 1356-1365

مصطلحات موضوعية: Genetics, Biotechnology, Mind and Body, Pediatric, Cancer, Health Services, Human Genome, Clinical Research, Generic health relevance, 4 Quality Education, Consensus, Delphi Technique, Genomics, Humans, Research Report, Stakeholder Participation, Reporting Item Standards for Education and its Evaluation in Genomics Expert Group, anzsrc-for: 0604 Genetics, anzsrc-for: 1103 Clinical Sciences

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_83501Test; https://unsworks.unsw.edu.au/bitstreams/0937bab7-b5ec-4475-a84b-70139f26ec5d/downloadTest; https://doi.org/10.1038/s41436-021-01140-xTest

الإتاحة: https://doi.org/10.1038/s41436-021-01140-xTest
http://hdl.handle.net/1959.4/unsworks_83501Test
https://unsworks.unsw.edu.au/bitstreams/0937bab7-b5ec-4475-a84b-70139f26ec5d/downloadTest

المؤلفون: Gregor, A, Meerbrei, T, Gerstner, T, Toutain, A, Lynch, SA, Stals, K, Maxton, C, Lemke, JR, Bernat, JA, Bombei, HM, Foulds, N, Hunt, D, Kuechler, A, Beygo, J, Stobe, P, Bouman, A, Palomares-Bralo, M, Santos-Simarro, F, Garcia-Minaur, S, Pacio-Miguez, M, Popp, B, Vasileiou, G, Hebebrand, M, Reis, A, Schuhmann, S, Krumbiegel, M, Brown, NJ, Sparber, P, Melikyan, L, Bessonova, L, Cherevatova, T, Sharkov, A, Shcherbakova, N, Dabir, T, Kini, U, Schwaibold, EMC, Haack, TB, Bertoli, M, Hoffjan, S, Falb, R, Shinawi, M, Sticht, H, Zweier, C

العلاقة: pii: 6367979; Gregor, A., Meerbrei, T., Gerstner, T., Toutain, A., Lynch, S. A., Stals, K., Maxton, C., Lemke, J. R., Bernat, J. A., Bombei, H. M., Foulds, N., Hunt, D., Kuechler, A., Beygo, J., Stobe, P., Bouman, A., Palomares-Bralo, M., Santos-Simarro, F., Garcia-Minaur, S. ,. Zweier, C. (2021). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. HUMAN MOLECULAR GENETICS, 31 (3), pp.440-454. https://doi.org/10.1093/hmg/ddab265Test.; http://hdl.handle.net/11343/301516Test

الإتاحة: https://doi.org/10.1093/hmg/ddab265Test
http://hdl.handle.net/11343/301516Test

المؤلفون: Zhang, B, Cunningham, MA, Nichols, WC, Bernat, JA, Seligsohn, U, Pipe, SW, McVey, JH, Schulte-Overberg, U, de Bosch, NB, Ruiz-Saez, A, White, GC, Tuddenham, EGD, Kaufman, RJ, Ginsburg, D

العلاقة: http://epubs.surrey.ac.uk/825906Test/; Zhang, B, Cunningham, MA, Nichols, WC, Bernat, JA, Seligsohn, U, Pipe, SW, McVey, JH, Schulte-Overberg, U, de Bosch, NB, Ruiz-Saez, A, White, GC, Tuddenham, EGD, Kaufman, RJ and Ginsburg, D (2003) Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex NATURE GENETICS, 34 (2). pp. 220-225.

الإتاحة: https://doi.org/10.1038/ng1153Test

المؤلفون: Bernát, Jan

مرشدي الرسالة: Rampl, Martin, Blažek, Vladimír

مصطلحات موضوعية: Sokolnice substation, Newtonova iterační metoda, můstkový provoz, zkrat., short-circuit., rozvodna Sokolnice, distribuční soustava, ustálený chod, bridge operation, steady state, distribution network, Electricity system, Elektrizační soustava, Newton’s iterative method

الإتاحة: http://www.nusl.cz/ntk/nusl-220944Test

المؤلفون: Bernat, Jakub

مرشدي الرسالة: Bič, Josef, Abrhám, Josef

مصطلحات موضوعية: oil, Energetika, Energy, gas, Ruská federace, EU, Central Europe, Russia

الإتاحة: http://www.nusl.cz/ntk/nusl-71780Test