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1دورية أكاديمية
المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB
المصدر: Annals of neurology. 82(6):1004-1015
مصطلحات موضوعية: Medicin och hälsovetenskap
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2رسالة جامعية
المؤلفون: Wedatilake, Y. N. G.
مصطلحات موضوعية: 618.92
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3دورية أكاديمية
المؤلفون: Chesher, D, Oddy, M, Darbar, U, Sayal, P, Casey, A, Ryan, A, Sechi, A, Simister, C, Waters, A, Wedatilake, Y, Lachmann, RH, Murphy, E
المصدر: Journal of Inherited Metabolic Disease , 41 (5) pp. 865-876. (2018)
مصطلحات موضوعية: Dental abcess, Enthesopathy, Nephrocalcinosis, Osteotomy, PHEX, Phosphate regulating endopeptidase homologue, X-linked hypophosphatemia, XLH
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10048064/7/Lachmann%20VoR%20Chesher_et_al-2018-Journal_of_Inherited_Metabolic_Disease.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10048064Test/
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4دورية أكاديمية
المؤلفون: Iwanicka-Pronicka K., Riley L., Roeben B., Rutsch F., Santer R., Schiff M., Seders M., Sequeira S., Sperl W., Unal O., Maas R.R., Kalkan Ucar S., Alhaddad B., AlSayed M., Al-Owain M.A., Al-Zaidan H.I., Balasubramaniam S., Baric I., Bubshait D.K., Burlina A., Christodoulou J., Chung W.K., Colombo R., Darin N., Freisinger P., Garcia Silva M.T., Grunewald S., Haack T.B., van Hasselt P.M., Hikmat O., Hörster F., Isohanni P., Ramzan K., Kovacs-Nagy R., Krumina Z., Martin-Hernandez E., Mayr J.A., McClean P., De Meirleir L., Naess K., Ngu L.H., Pajdowska M., Rahman S., Riordan G., Staufner C., Synofzik M., Taylor R.W., Trubicka J., Tsiakas K., Wassmer E., Wedatilake Y., Wolff T., Prokisch H., Morava E., Pronicka E., Wevers R.A., de Brouwer A.P., Wortmann S.B.
العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Annals of Neurology; https://hdl.handle.net/11454/25350Test; https://doi.org/10.1002/ana.25110Test; 82; 1004; 1015
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5دورية أكاديمية
المؤلفون: Reid, E, Papandreou, A, Drury, S, Boustred, C, Yue, W, Wedatilake, Y, Beesley, C, Jacques, T, Anderson, G, Abulhoul, L, Broomfield, A, Cleary, M, Grunewald, S, Varadkar, S, Lench, N, Rahman, S, Gissen, P, Clayton, P, Mills, P
العلاقة: https://ora.ox.ac.uk/objects/uuid:80f90bbf-0b53-44f7-ae94-07f981fd9648Test; https://doi.org/10.1093/brain/aww221Test
الإتاحة: https://doi.org/10.1093/brain/aww221Test
https://ora.ox.ac.uk/objects/uuid:80f90bbf-0b53-44f7-ae94-07f981fd9648Test -
6دورية أكاديمية
المؤلفون: Reid, ES, Papandreou, A, Drury, S, Boustred, C, Yue, WW, Wedatilake, Y, Beesley, C, Jacques, TS, Anderson, G, Abulhoul, L, Broomfield, A, Cleary, M, Grunewald, S, Varadkar, SM, Lench, N, Rahman, S, Gissen, P, Clayton, PT, Mills, PB
المصدر: Brain , 139 (11) pp. 2844-2854. (2016)
مصطلحات موضوعية: gene panel, heterogeneity, inborn errors of metabolism, neurometabolic disorders, next-generation sequencing
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1515891/1/2844.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1515891Test/
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7دورية أكاديمية
المؤلفون: Menezes, MP, Rahman, S, Bhattacharya, K, Clark, D, Christodoulou, J, Ellaway, C, Farrar, M, Pitt, M, Sampaio, H, Ware, TL, Wedatilake, Y, Thorburn, DR, Ryan, MM, Ouvrier, R
المصدر: Mitochondrion , 30 pp. 162-167. (2016)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cell Biology, Genetics & Heredity, Mitochondrial disease, Childhood, Neuropathy, Demyelinating, Mitochondrial DNA, MARIE-TOOTH-DISEASE, PYRUVATE-DEHYDROGENASE DEFICIENCY, LEIGH-SYNDROME, NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY, SENSORY NEUROPATHY, NERVE-CONDUCTION, SURF1 DEFICIENCY, LACTIC-ACIDOSIS, MITOFUSIN 2, MUTATIONS
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1508000/1/Mitochondrial%20Neuropathy_Menezes_Manuscript.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1508000Test/
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8دورية أكاديمية
المؤلفون: Wedatilake, Y, Niazi, R, Fassone, E, Powell, CA, Pearce, S, Plagnol, V, Saldanha, JW, Kleta, R, Chong, WK, Footitt, E, Mills, PB, Taanman, JW, Minczuk, M, Clayton, PT, Rahman, S
المصدر: Orphanet Journal of Rare Diseases , 11 (90) pp. 1-14. (2016)
مصطلحات موضوعية: Mitochondrial disease, Protein translation, SIFD, Sideroblastic anaemia, TRNT1, tRNA
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1503695/1/Rahman-S__art%253A10.1186%252Fs13023-016-0477-0.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1503695Test/
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9دورية أكاديمية
المؤلفون: Wedatilake, Y, Plagnol, V, Anderson, G, Paine, SM, Clayton, PT, Jacques, TS, Rahman, S
المصدر: Neuropathol Appl Neurobiol , 41 (3) 399 - 402. (2015)
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1452376/1/nan12190.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1452376Test/
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10دورية أكاديمية
المؤلفون: Wedatilake, Y, Brown, RM, McFarland, R, Yaplito-Lee, J, Morris, AAM, Champion, M, Jardine, PE, Clarke, A, Thorburn, DR, Taylor, RW, Land, JM, Forrest, K, Dobbie, A, Simmons, L, Aasheim, ET, Ketteridge, D, Hanrahan, D, Chakrapani, A, Brown, GK, Rahman, S
العلاقة: pii: 1750-1172-8-96; Wedatilake, Y., Brown, R. M., McFarland, R., Yaplito-Lee, J., Morris, A. A. M., Champion, M., Jardine, P. E., Clarke, A., Thorburn, D. R., Taylor, R. W., Land, J. M., Forrest, K., Dobbie, A., Simmons, L., Aasheim, E. T., Ketteridge, D., Hanrahan, D., Chakrapani, A., Brown, G. K. & Rahman, S. (2013). SURF1 deficiency: a multi-centre natural history study. ORPHANET JOURNAL OF RARE DISEASES, 8 (1), https://doi.org/10.1186/1750-1172-8-96Test.; http://hdl.handle.net/11343/265402Test
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