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1دورية أكاديمية
المؤلفون: Selvan, N., George, S., Serajee, F., Shaw, M., Hobson, L., Kalscheuer, V., Nripesh, P., Levy, S., Taylor, J., Aftimos, S., Schwartz, C., Huq, A., Gecz, J., Wells, L.
المصدر: Journal of Biological Chemistry
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0002-0DDB-ATest; http://hdl.handle.net/21.11116/0000-0002-0DDD-8Test
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2دورية أكاديمية
المؤلفون: Campeau, PM, Kasperaviciute, D, Lu, JT, Burrage, LC, Kim, C, Hori, M, Powell, BR, Stewart, F, Félix, TM, van den Ende, J, Wisniewska, M, Kayserili, H, Rump, P, Nampoothiri, S, Aftimos, S, Mey, A, Nair, LD, Begleiter, ML, De Bie, I, Meenakshi, G, Murray, ML, Repetto, GM, Golabi, M, Blair, E, Male, A, Giuliano, F, Kariminejad, A, Newman, WG, Bhaskar, SS, Dickerson, JE, Kerr, B, Banka, S, Giltay, JC, Wieczorek, D, Tostevin, A, Wiszniewska, J, Cheung, SW, Hennekam, RC, Gibbs, RA, Lee, BH, Sisodiya, SM
المصدر: Lancet Neurology , 13 (1) pp. 44-58. (2014)
مصطلحات موضوعية: Adolescent, Carrier Proteins, Child, Preschool, Craniofacial Abnormalities, Exome, Female, Hand Deformities, Congenital, Hearing Loss, Sensorineural, Humans, Infant, Intellectual Disability, Internationality, Male, Nails, Malformed, Phenotype, Sequence Analysis, DNA, Young Adult
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1413631/1/1-s2.0-S1474442213702655-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1413631Test/
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3دورية أكاديمية
المؤلفون: Wu, JY, McGown, IN, Lin, L, Achermann, JC, Harris, M, Cowley, DM, Aftimos, S, Neville, KA, Choong, CS, Cotterill, AM
المصدر: Clinical Endocrinology , 78 (4) 545 - 550. (2013)
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1368145/1/cen12012.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1368145Test/
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4دورية أكاديمية
المؤلفون: Schwarze, U., Cundy, T., Pyott, S. M., Christiansen, H. E., Hegde, M. R., Bank, R. A., Pals, G., Ankala, A., Conneely, K., Seaver, L., Yandow, S. M., Raney, E., Babovic-Vuksanovic, D., Stoler, J., Ben-Neriah, Z., Segel, R., Lieberman, S., Siderius, L., Al-Aqeel, A., Hannibal, M., Hudgins, L., McPherson, E., Clemens, M., Sussman, M. D., Steiner, R. D., Mahan, J., Smith, R., Anyane-Yeboa, K., Wynn, J., Chong, K., Uster, T., Aftimos, S., Sutton, V. R., Davis, E. C., Kim, L. S., Weis, M. A., Eyre, D., Byers, P. H.
المصدر: Human Molecular Genetics ; volume 22, issue 1, page 1-17 ; ISSN 0964-6906 1460-2083
الإتاحة: https://doi.org/10.1093/hmg/dds371Test
http://academic.oup.com/hmg/article-pdf/22/1/1/1695279/dds371.pdfTest -
5دورية أكاديمية
المؤلفون: Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamande, S., Savarirayan, R.
مصطلحات موضوعية: TRPV4, Metatropic Dysplasia (MD), Autosomal Dominant Brachyolmia (ADBO), Spondilometaphyseal Dysplasia Kozlowski Type (SMDK)
وصف الملف: application/pdf
العلاقة: Orphanet Journal of Rare Diseases, 2011; 6(1):1-8; http://hdl.handle.net/2440/70079Test; Haan, E. [0000-0002-7310-5124]
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6دورية أكاديمية
المؤلفون: FRYNS, J-P, AFTIMOS, S
مصطلحات موضوعية: Letters to the editor
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/37/6/460Test; http://dx.doi.org/10.1136/jmg.37.6.460Test
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7دورية أكاديمية
المؤلفون: Robertson, S, Jenkins, Z, Morgan, T, Ades, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Minaur, S, Grix, A, Green, A, Kalouistian, V, Lewkonia, R, McInnes, B, Haelst, v, Macini, G, Illes, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A, Suri, M
العلاقة: https://ora.ox.ac.uk/objects/uuid:9e3b5f8a-68fe-4a08-a8af-0bec4451a417Test; https://doi.org/10.1002/ajmg.a.31549Test
الإتاحة: https://doi.org/10.1002/ajmg.a.31549Test
https://ora.ox.ac.uk/objects/uuid:9e3b5f8a-68fe-4a08-a8af-0bec4451a417Test -
8دورية أكاديمية
المؤلفون: Aldred, M, Aftimos, S, Hall, C, Waters, K, Thakker, R, Trembath, R, Brueton, L
العلاقة: https://ora.ox.ac.uk/objects/uuid:86d7454b-5dc9-412f-ba85-7ed6546a14b8Test; https://doi.org/10.1002/ajmg.10751Test
الإتاحة: https://doi.org/10.1002/ajmg.10751Test
https://ora.ox.ac.uk/objects/uuid:86d7454b-5dc9-412f-ba85-7ed6546a14b8Test -
9دورية أكاديمية
المؤلفون: Gibbons, R, Bachoo, S, Picketts, D, Aftimos, S, Asenbauer, B, Bergoffen, J, Berry, SA, Dahl, N, Fryer, A, Keppler, K, Kurosawa, K, Levin, M, Masuno, M, Neri, G, Pierpont, M, Slaney, S, Higgs, D
العلاقة: https://ora.ox.ac.uk/objects/uuid:3d459bda-092b-4749-a7e1-dd7b374c84f1Test; https://doi.org/10.1038/ng1097-146Test
الإتاحة: https://doi.org/10.1038/ng1097-146Test
https://ora.ox.ac.uk/objects/uuid:3d459bda-092b-4749-a7e1-dd7b374c84f1Test -
10دورية أكاديمية
المؤلفون: Robertson, S, Jenkins, Z, Morgan, T, Adès, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Miñaur, S, Grix, A, Green, A, Der Kaloustian, V, Lewkonia, R, McInnes, B, Haelst, v, Mancini, G, Macini, G, Illés, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A
العلاقة: https://ora.ox.ac.uk/objects/uuid:0277fb7d-5c68-400c-9511-f7c37d97c2d8Test; https://doi.org/10.1002/ajmg.a.31322Test
الإتاحة: https://doi.org/10.1002/ajmg.a.31322Test
https://ora.ox.ac.uk/objects/uuid:0277fb7d-5c68-400c-9511-f7c37d97c2d8Test