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6دورية أكاديمية
المؤلفون: Loh, A.Y.T., Ho, C.M., Muthiah, S., Venkatesh, B., Zwolinski, S., Bray, A.P.J.J., Reversade, B., Rajan, N., Carney, T.J.
المساهمون: National Institute for Health Research, Agency for Science, Technology and Research
المصدر: British Journal of Dermatology ; volume 184, issue 6, page 1205-1207 ; ISSN 0007-0963 1365-2133
مصطلحات موضوعية: Dermatology
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7دورية أكاديمية
المؤلفون: Buskin, A., Zhu, L., Chichagova, V., Basu, B., Mozaffari-Jovin, S., Dolan, D., Droop, A., Collin, J., Bronstein, R., Mehrotra, S., Farkas, M., Hilgen, G., White, K., Pan, K.-T., Treumann, A., Hallam, D., Bialas, K., Chung, G., Mellough, C., Ding, Y., Krasnogor, N., Przyborksi, S., Zwolinski, S., Al-Aama, J., Alharthi, S., Xu, Y., Wheway, G., Szymanska, K., McKibbin, M., Inglehearn, C. F., Elliott, D. J., Lindsay, S., Ali, R. R., Steel, D. H., Armstrong, L., Sernagor, E., Urlaub, H., Pierce, E., Lührmann, R., Grellscheid, S.-N., Johnson, C. A., Lako, M.
وصف الملف: application/pdf
العلاقة: http://eprints.uwe.ac.uk/37368/7/s41467-018-06448-y.pdfTest; Buskin, A. , Zhu, L. , Chichagova, V. , Basu, B. , Mozaffari-Jovin, S. , Dolan, D. , Droop, A. , Collin, J. , Bronstein, R. , Mehrotra, S. , Farkas, M. , Hilgen, G. , White, K. , Pan, K.-T. , Treumann, A. , Hallam, D. , Bialas, K. , Chung, G. , Mellough, C. , Ding, Y. , Krasnogor, N. , Przyborksi, S. , Zwolinski, S. , Al-Aama, J. , Alharthi, S. , Xu, Y. , Wheway, G. , Szymanska, K. , McKibbin, M. , Inglehearn, C. F. , Elliott, D. J. , Lindsay, S. , Ali, R. R. , Steel, D. H. , Armstrong, L. , Sernagor, E. , Urlaub, H. , Pierce, E. , Lührmann, R. , Grellscheid, S.-N. , Johnson, C. A. and Lako, M. (2018) Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature Communications, 9. p. 4234. ISSN 2041-1723 Available from: http://eprints.uwe.ac.uk/37368Test
الإتاحة: https://doi.org/10.1038/s41467-018-06448-yTest
http://eprints.uwe.ac.uk/37368Test/
http://eprints.uwe.ac.uk/37368/7/s41467-018-06448-y.pdfTest -
8دورية أكاديمية
المؤلفون: Buskin, A, Zhu, L, Chichagova, V, Basu, B, Mozaffari-Jovin, S, Dolan, D, Droop, A, Collin, J, Bronstein, R, Mehrotra, S, Farkas, M, Hilgen, G, White, K, Pan, K-T, Treumann, A, Hallam, D, Bialas, K, Chung, G, Mellough, C, Ding, Y, Krasnogor, N, Przyborski, S, Zwolinski, S, Al-Aama, J, Alharthi, S, Xu, Y, Wheway, G, Szymanska, K, McKibbin, M, Inglehearn, CF, Elliott, DJ, Lindsay, S, Ali, RR, Steel, DH, Armstrong, L, Sernagor, E, Urlaub, H, Pierce, E, Luehrmann, R, Grellscheid, S-N, Johnson, CA, Lako, M
المصدر: Nature Communications , 9 , Article 4234. (2018)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10091536/1/s41467-018-06448-y.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10091536Test/
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9دورية أكاديمية
المؤلفون: Brown, S., Ahmed, J., Zwolinski, S., Brennan, P., Rajan, N.
المساهمون: Wellcome Trust
المصدر: British Journal of Dermatology ; volume 178, issue 1, page 284-285 ; ISSN 0007-0963 1365-2133
مصطلحات موضوعية: Dermatology
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10دورية أكاديمية
المؤلفون: Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O'Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Wright CF, FitzPatrick DR, Firth HV, Hurles ME
المصدر: Nature Communications, December 2021
وصف الملف: application/pdf
