-
1دورية أكاديمية
المؤلفون: Corradi, Z., Khan, M., Hitti-Malin, R., Mishra, K., Whelan, L., Cornelis, S., Hoyng, C., Kämpjärvi, K., Klaver, C., Liskova, P., Stohr, H., Weber, B., Banfi, S., Farrar, G., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, C., Cremers, F.
المساهمون: ABCA4-Study Group
المصدر: Human Genetics and Genomics Advances
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000D-B442-DTest; http://hdl.handle.net/21.11116/0000-000D-DEC1-FTest
-
2دورية أكاديمية
المؤلفون: Yahya, S, Smith, CEL, Poulter, JA, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, MI, Cremers, FPM, Hardcastle, AJ, Castle, B, Steel, DHW, Webster, AR, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/190501/3/PIIS0161642022005656.pdfTest; Yahya, S, Smith, CEL orcid.org/0000-0001-8320-5105 , Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2023) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 130 (1). pp. 68-76. ISSN 0161-6420
-
3دورية أكاديمية
المؤلفون: Hitti-Malin, R. J., Panneman, D. M., Corradi, Z., Boonen, E. G. M., Astuti, G., Dhaenens, Claire-Marie, Stöhr, H., Weber, B. H. F., Sharon, D., Banin, E., Karali, M., Banfi, S., Ben-Yosef, T., Glavač, D., Farrar, G. J., Ayuso, C., Liskova, P., Dudakova, L., Vajter, M., Ołdak, M., Szaflik, J. P., Matynia, A., Gorin, M. B., Kämpjärvi, K., Bauwens, M., De Baere, E., Hoyng, C. B., Li, C. H. Z., Klaver, C. C. W., Inglehearn, C. F., Fujinami, K., Rivolta, C., Allikmets, R., Zernant, J., Lee, W., Podhajcer, O. L., Fakin, A., Sajovic, J., Altalbishi, A., Valeina, S., Taurina, G., Vincent, A. L., Roberts, L., Ramesar, R., Sartor, G., Luppi, E., Downes, S. M., Van Den Born, L. I., Mclaren, T. L., De Roach, J. N., Lamey, T. M., Thompson, J. A., Chen, F. K., Tracewska, A. M., Kamakari, S., Sallum, J. M. F., Bolz, H. J., Kayserili, H., Roosing, S., Cremers, F. P. M.
المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172
مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance
العلاقة: Biomolecules; http://hdl.handle.net/20.500.12210/114178Test
-
4دورية أكاديمية
المؤلفون: Yahya, S., Smith, C. E. L., Poulter, J. A., McKibbin, M., Arno, G., Ellingford, J., Kämpjärvi, K., Khan, M. I., Cremers, F. P. M., Hardcastle, A. J., Castle, B., Steel, D. H. W., Webster, A. R., Black, G. C., El-Asrag, M. E., Ali, M., Toomes, C., Inglehearn, C. F.
مصطلحات موضوعية: Amd, Crx, Macular disease, Retinal disease, Sult2a1, Tprx1
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0161-6420Test(22)00565-6; Ophthalmology. 2022 Aug 5:S0161-6420(22)00565-6. doi:10.1016/j.ophtha.2022.07.023.; https://rde.dspace-express.com/handle/11287/622604Test; Ophthalmology
الإتاحة: https://doi.org/10.1016/j.ophtha.2022.07.023Test
https://rde.dspace-express.com/handle/11287/622604Test -
5دورية أكاديمية
المؤلفون: Uimari, O. (Outi), Ahtikoski, A. (Anne), Kämpjärvi, K. (Kati), Butzow, R. (Ralf), Järvelä, I. Y. (Ilkka Y.), Ryynänen, M. (Markku), Aaltonen, L. A. (Lauri A.), Vahteristo, P. (Pia), Kuismin, O. (Outi)
مصطلحات موضوعية: Bcl-2, CD34, HLRCC, fumarate hydratase, hereditary leiomyomatosis and renal cell cancer, uterine leiomyoma
وصف الملف: application/pdf
-
6
المؤلفون: Yahya, S, Smith, CEL, Poulter, JA, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, MI, Cremers, FPM, Hardcastle, AJ, Castle, B, Steel, DHW, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Webster, AR, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e648b1ddfe054c1b1657fdd744e16b62Test
-
7دورية أكاديمية
المؤلفون: Kämpjärvi, K., Mäkinen, N., Kilpivaara, O., Arola, J., Heinonen, H., Böhm, J., Abdel-Wahab, O., Lehtonen, H., Pelttari, L., Mehine, M., Schrewe, H., Nevanlinna, H., Levine, R., Hokland, P., Böhling, T., Mecklin, J., Bützow, R., Aaltonen, L., Vahteristo, P.
المصدر: British Journal of Cancer
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/11858/00-001M-0000-000E-B8AE-ETest; http://hdl.handle.net/11858/00-001M-0000-000E-B8B2-2Test
-
8دورية أكاديمية
المؤلفون: Antoniou, A.C. (Antonis), Spurdle, A.B. (Amanda), Sinilnikova, O. (Olga), Healey, S. (Sue), Pooley, K.A. (Karen), Schmutzler, R.K. (Rita), Versmold, B. (Beatrix), Engel, C. (Christoph), Meindl, A. (Alfons), Arnold, N. (Norbert), Hofmann, W. (Wera), Sutter, C. (Christian), Niederacher, D. (Dieter), Deissler, H. (Helmut), Caldes, T. (Trinidad), Kämpjärvi, K. (Kati), Nevanlinna, H. (Heli), Simard, J. (Jacques), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Neuhausen, S.L. (Susan), Rebbeck, R. (Timothy), Wagner, T. (Teresa), Lynch, H. (Henry), Isaacs, C. (Claudine), Weitzel, J.N. (Jeffrey), Ganz, P.A. (Patricia), Daly, M.J. (Mark), Tomlinson, G. (Gail), Olopade, O.I. (Olofunmilayo), Blum, J.L. (Joanne), Couch, F.J. (Fergus), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Radice, P. (Paolo), Szabo, C. (Csilla), Pereira, L.H.M., Greene, M.H. (Mark), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Barnett-Griness, O. (Ofra), Andrulis, I.L. (Irene), Ozcelik, H. (Hilmi), Gerdes, A-M. (Anne-Marie), Caligo, M.A. (Maria), Laitman, Y. (Yael), Kaufman, B. (Bella), Milgrom, R. (Roni), Friedman, E. (Eitan), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Osorio, A. (Ana), Llort, G. (Gemma), Milne, R.L. (Roger), Benítez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Manders, P. (Peggy), Ligtenberg, M.J. (Marjolijn), Ouweland, A.M.W. (Ans) van den, Peock, S. (Susan), Cook, M. (Margaret), Platte, R. (Radka), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Pichert, G. (Gabriella), Chu, C. (Chengbin), Eccles, D. (Diana), Davidson, R. (Rosemarie), Douglas, F. (Fiona), Godwin, A.K. (Andrew), Mazoyer, S. (Sylvie), Sobol, H. (Hagay), Bourdon, V. (Violaine), Eisinger, F. (François), Chompret, A. (Agnès), Barjhoux, L. (Laure), Capoulade, C. (Corinne), Bressac-de Paillerets, B. (Brigitte), Lenoir, G.M. (Gilbert), Gauthier-Villars, M. (Marion), Houdayer, C. (Claude), Stoppa-Lyonnet, D. (Dominique), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas)
المصدر: American Journal of Human Genetics vol. 82 no. 4, pp. 937-948
العلاقة: http://repub.eur.nl/pub/28979Test; urn:hdl:1765/28979
-
9دورية أكاديمية
المؤلفون: Kämpjärvi, K, Park, M, Mehine, M, Kim, N, Clark, A, Bützow, R, Böhling, T, Böhm, J, Mecklin, J, Järvinen, H, Tomlinson, I, van der Spuy, Z, Sjöberg, J, Boyer, T, Vahteristo, P
العلاقة: https://ora.ox.ac.uk/objects/uuid:f166659f-83f5-45cb-9594-c478c40709e4Test; https://doi.org/10.1002/humu.22612Test
الإتاحة: https://doi.org/10.1002/humu.22612Test
https://ora.ox.ac.uk/objects/uuid:f166659f-83f5-45cb-9594-c478c40709e4Test -
10دورية أكاديمية
المؤلفون: Kämpjärvi, K., Heikkinen, T., Keskitalo, S., Von Nandelstadh, P., Rantanen, V., Pitkänen, E., Lehti, K., Mustjoki, S., Varjosalo, M., Vahteristo, P.
المصدر: European Journal of Cancer ; volume 61, page S88 ; ISSN 0959-8049
مصطلحات موضوعية: Cancer Research, Oncology
الإتاحة: https://doi.org/10.1016/s0959-8049Test(16)61308-4
https://api.elsevier.com/content/article/PII:S0959804916613084?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0959804916613084?httpAccept=text/plainTest