المؤلفون: Casey, RT, Ascher, DB, Rattenberry, E, Izatt, L, Andrews, KA, Simpson, HL, Challis, B, Park, S-M, Bulusu, VR, Lalloo, F, Pires, DEV, West, H, Clark, GR, Smith, PS, Whitworth, J, Papathomas, TG, Taniere, P, Savisaar, R, Hurst, LD, Woodward, ER, Maher, ER

مصطلحات موضوعية: pathogenesis, SDHA, variant

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/263335

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/263335
https://doi.org/10.17863/CAM.8671

المؤلفون: Dénes, J, Swords, F, Rattenberry, E, Stals, K, Owens, M, Cranston, T, Xekouki, P, Moran, L, Kumar, A, Wassif, C, Fersht, N, Baldeweg, SE, Morris, D, Lightman, S, Agha, A, Rees, A, Grieve, J, Powell, M, Luiz Boguszewski, C, Dutta, P, Thakker, R, Srirangalingam, U, Thompson, C, Druce, M, Higham, C

Relation: https://ora.ox.ac.uk/objects/uuid:13a8581b-2d5a-4393-bdcc-ef822e446065; https://doi.org/10.1210/jc.2014-3399

الاتاحة: https://doi.org/10.1210/jc.2014-3399
https://ora.ox.ac.uk/objects/uuid:13a8581b-2d5a-4393-bdcc-ef822e446065

المؤلفون: Jafri, M, Wake, NC, Ascher, DB, Pires, DEV, Gentle, D, Morris, MR, Rattenberry, E, Simpson, MA, Trembath, RC, Weber, A, Woodward, ER, Donaldson, A, Blundell, TL, Latif, F, Maher, ER

Relation: NHMRC/1072476; pii: 2159-8290.CD-14-1096; Jafri, M., Wake, N. C., Ascher, D. B., Pires, D. E. V., Gentle, D., Morris, M. R., Rattenberry, E., Simpson, M. A., Trembath, R. C., Weber, A., Woodward, E. R., Donaldson, A., Blundell, T. L., Latif, F. & Maher, E. R. (2015). Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma. CANCER DISCOVERY, 5 (7), pp.723-729. https://doi.org/10.1158/2159-8290.CD-14-1096.; http://hdl.handle.net/11343/168257

الاتاحة: http://hdl.handle.net/11343/168257

المؤلفون: Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar A, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG, Srirangalingam U, Chew SL, Evans DGR, Hodgson SV, Irving R, Woodward E, Macdonald F, Maher ER

المصدر: Clinical Endocrinology, 06-04-2013

Relation: https://eprints.ncl.ac.uk/188508

الاتاحة: https://eprints.ncl.ac.uk/188508

المؤلفون: Ricketts, C.J., Forman, J.R., Rattenberry, E., Bradshaw, N., Lalloo, F., Izatt, L., Cole, T.R., Armstrong, R., Kumar, V.K.A., Morrison, Patrick, Atkinson, A.B., Douglas, F., Ball, S.G., Cook, J., Srirangalingam, U., Killick, P., Kirby, G., Aylwin, S., Woodward, E.R., Evans, D.G.R., Hodgson, S.V., Murday, V., Chew, S.L., Connell, J.M., Blunde, T.L., MacDonald, F., Maher, E.R.

المصدر: Ricketts , C J , Forman , J R , Rattenberry , E , Bradshaw , N , Lalloo , F , Izatt , L , Cole , T R , Armstrong , R , Kumar , V K A , Morrison , P , Atkinson , A B , Douglas , F , Ball , S G , Cook , J , Srirangalingam , U , Killick , P , Kirby , G , Aylwin , S , Woodward , E R , Evans , D G R , Hodgson , S V , Murday , V , ....

مصطلحات موضوعية: /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

الاتاحة: https://pure.qub.ac.uk/en/publications/87416657-7739-43be-8dad-7219cbf67975
https://doi.org/10.1002/humu.21136

المؤلفون: Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VKA, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DGR, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, MacDonald F, Maher ER

المصدر: Human Mutation, 02-10-2009

Relation: https://eprints.ncl.ac.uk/154083

الاتاحة: https://eprints.ncl.ac.uk/154083

المؤلفون: McMullan, D.J., Bonin, M., Hehir-Kwa, J.Y., Vries, L.B.A. de, Dufke, A., Rattenberry, E., Steehouwer, M., Moruz, L.M., Pfundt, R.P., Leeuw, N. de, Riess, A., Altug-Teber, O., Enders, H., Singer, S., Grasshoff, U., Walter, M., Walker, J.M., Lamb, C.V., Davison, E.V., Brueton, L., Riess, O., Veltman, J.A.

المصدر: Human Mutation, 30, 7, pp. 1082-92

مصطلحات موضوعية: IGMD 3: Genomic disorders and inherited multi-system disorders, NCMLS 6: Genetics and epigenetic pathways of disease, ONCOL 3: Translational research

Relation: http://hdl.handle.net/2066/79652

الاتاحة: http://hdl.handle.net/2066/79652
https://doi.org/10.1002/humu.21015

المؤلفون: Armstrong, R, Greenhalgh, K L, Rattenberry, E, Judd, B, Shukla, R, Losty, P D, Maher, E R

المصدر: Journal of Medical Genetics ; volume 46, issue 3, page 215-216 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.2008.060749
https://syndication.highwire.org/content/doi/10.1136/jmg.2008.060749

المؤلفون: White, DRE, Ganesh, A, Nishimura, D, Rattenberry, E, Ahmed, S, Smith, UM, Pasha, S, Raeburn, S, Trembath, RC, Rajab, A, Macdonald, F, Banin, E, Stone, ED, Johnson, CA, Sheffield, VC, Maher, ER

المصدر: White , DRE , Ganesh , A , Nishimura , D , Rattenberry , E , Ahmed , S , Smith , UM , Pasha , S , Raeburn , S , Trembath , RC , Rajab , A , Macdonald , F , Banin , E , Stone , ED , Johnson , CA , Sheffield , VC & Maher , ER 2007 , ' Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. ' , European Journal of Human Genetics , vol. 15 , no. 2 , pp. 173 - 178 . https://doi.org/10.1038/sj.ejhg.5201736

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/c4a6f729-cd13-4a4e-aaa4-1afbe391536e
https://doi.org/10.1038/sj.ejhg.5201736

المؤلفون: Casey, RT, Ascher, DB, Rattenberry, E, Izatt, L, Andrews, KA, Simpson, HL, Challis, B, Park, S-M, Bulusu, VR, Lalloo, F, Pires, DEV, West, H, Clark, GR, Smith, PS, Whitworth, J, Papathomas, TG, Taniere, P, Savisaar, R, Hurst, LD, Woodward, ER, Maher, ER

مصطلحات موضوعية: variant, pathogenesis, SDHA, 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::82ef3368f87f3afa863e7f5c6f7e3de6

المؤلفون: Rattenberry, Eleanor Clare

مصطلحات موضوعية: 616.99, QH426 Genetics, RC0254 Neoplasms. Tumors. Oncology (including Cancer)

الاتاحة: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.687517