المؤلفون: Patel, A, Hayward, JD, Tailor, V, Nyanhete, R, Ahlfors, H, Gabriel, C, Jannini, TB, Abbou-Rayyah, Y, Henderson, R, Nischal, KK, Islam, L, Bitner-Glindzicz, M, Hurst, J, Valdivia, LE, Zanolli, M, Moosajee, M, Brookes, J, Papadopoulos, M, Khaw, PT, Cullup, T, Jenkins, L, Dahlmann-Noor, A, Sowden, JC

المصدر: Ophthalmology , 126 (6) pp. 888-907. (2019)

مصطلحات موضوعية: Anterior segment dysgenesis, childhood, coloboma, congenital cataracts, congenital glaucoma, developmental, genetics, microphthalmia, paediatric ophthalmology, retinal dystrophies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10066559/1/1-s2.0-S016164201831858X-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10066559Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10066559/1/1-s2.0-S016164201831858X-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10066559Test/

المؤلفون: Medsinge A, Nischal KK

المصدر: Clinical Ophthalmology, Vol 2015, Iss default, Pp 77-90 (2015)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.dovepress.com/pediatric-cataract-challenges-and-future-directions-peer-reviewed-article-OPTHTest; https://doaj.org/toc/1177-5483Test

الوصول الحر: https://doaj.org/article/fa4602a475c24e5a89b665eee0c09752Test

المؤلفون: Ansari, M, Rainger, J, Hanson, IM, Williamson, KA, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, DS, Stewart, F, Willoughby, CE, McEntagart, M, Khaw, PT, Clericuzio, C, Van Maldergem, L, Williams, D, Newbury-Ecob, R, Traboulsi, EI, Silva, ED, Madlom, MM, Goudie, DR, Fleck, BW, Wieczorek, D, Kohlhase, J, McTrusty, AD, Gardiner, C, Yale, C, Moore, AT, Russell-Eggitt, I, Islam, L, Lees, M, Beales, PL, Tuft, SJ, Solano, JB, Splitt, M, Hertz, JM, Prescott, TE, Shears, DJ, Nischal, KK, Doco-Fenzy, M, Prieur, F, Temple, IK, Lachlan, KL, Damante, G, Morrison, DA, van Heyningen, V, FitzPatrick, DR

المصدر: PLoS One , 11 (4) , Article e0153757. (2016)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1489804/7/Ansari%202016%20Genetic%20analysis%20of%20PAX6-Negative.PDFTest; https://discovery.ucl.ac.uk/id/eprint/1489804Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1489804/7/Ansari%202016%20Genetic%20analysis%20of%20PAX6-Negative.PDFTest
https://discovery.ucl.ac.uk/id/eprint/1489804Test/

المؤلفون: Kelberman, D, Islam, L, Lakowski, J, Bacchelli, C, Chanudet, E, Lescai, F, Patel, A, Stupka, E, Buck, A, Wolf, S, Beales, PL, Jacques, TS, Bitner-Glindzicz, M, Liasis, A, Lehmann, OJ, Kohlhase, J, Nischal, KK, Sowden, JC

المصدر: Hum Mol Genet , 23 (10) pp. 2511-2526. (2014)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1420526/1/Hum._Mol._Genet.-2014-Kelberman-2511-26.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1420526Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1420526/1/Hum._Mol._Genet.-2014-Kelberman-2511-26.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1420526Test/

المؤلفون: Absoud, M, Lim, MJ, Chong, WK, DeGoede, C, Foster, K, Gunny, R, Hemingway, C, Jardine, P, Kneen, R, Likeman, M, Nischal, KK, Pike, M, Sibtain, N, Whitehouse, W, Cummins, C, Wassmer, E

مصطلحات موضوعية: Plenary

وصف الملف: text/html

العلاقة: http://adc.bmj.com/cgi/content/short/97/Suppl_1/A4-aTest; http://dx.doi.org/10.1136/archdischild-2012-301885.9Test

الإتاحة: https://doi.org/10.1136/archdischild-2012-301885.9Test
http://adc.bmj.com/cgi/content/short/97/Suppl_1/A4-aTest

المؤلفون: Assi, A, Nischal, KK, Uddin, J, Thyveetil, MD

مصطلحات موضوعية: Letters to the Editor

وصف الملف: text/html

العلاقة: http://rheumatology.oxfordjournals.org/cgi/content/short/36/9/1023Test; http://dx.doi.org/10.1093/rheumatology/36.9.1023Test

الإتاحة: https://doi.org/10.1093/rheumatology/36.9.1023Test
http://rheumatology.oxfordjournals.org/cgi/content/short/36/9/1023Test

المؤلفون: Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel Salem GM, Babul Hirji R, Baxter P, Berger A, Bonafé L, Brunstom Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ, GARONE, CATERINA

المساهمون: Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22267198; info:eu-repo/semantics/altIdentifier/wos/WOS:000300843600023; volume:44; firstpage:338; lastpage:342; numberofpages:4; journal:NATURE GENETICS; http://hdl.handle.net/2318/142832Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84863393024

الإتاحة: https://doi.org/10.1038/ng.1084Test
http://hdl.handle.net/2318/142832Test

المؤلفون: Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Attard Montalto S, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D’arrigo S, Dean J, De Laet C, De Praeter C, Déry C, Ferrie CD, Flintoff K, Frints SGM, Garcia Cazorla A, Gener B, Goizet C, Goutières F, Green AJ, Guët A, Hamel BCJ, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EGH, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Østergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl Bürgi S, Seal S, Shalev SA, Sierra Corcoles C, Sinha GP, Soler D, Spiegel R, Stephenson JBP, Tacke U, Tan T, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Van Coster RNA, Van der Aa N, Vanderver A, Vles JSH, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MAA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ, VALENTE, Enza Maria

المساهمون: Rice, G, Patrick, T, Parmar, R, Taylor, Cf, Aeby, A, Aicardi, J, Artuch, R, Attard Montalto, S, Bacino, Ca, Barroso, B, Baxter, P, Benko, W, Bergmann, C, Bertini, E, Biancheri, R, Blair, Em, Blau, N, Bonthron, Dt, Briggs, T, Brueton, La, Brunner, Hg, Burke, Cj, Carr, Im, Carvalho, Dr, Chandler, Ke, Christen, Hj, Corry, Pc, Cowan, Fm, Cox, H, D’Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Déry, C, Ferrie, Cd, Flintoff, K, Frints, Sgm, Garcia Cazorla, A, Gener, B, Goizet, C, Goutières, F, Green, Aj, Guët, A, Hamel, Bcj, Hayward, Be, Heiberg, A, Hennekam, Rc, Husson, M, Jackson, Ap, Jayatunga, R, Jiang, Yh, Kant, Sg, Kao, A, King, Md, Kingston, Hm, Klepper, J, van der Knaap, M, Kornberg, Aj, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, Pg, Lanzi, G, Leitch, A, Lim, Mj, Livingston, Jh, Lourenco, Cm, Lyall, Egh, Lynch, Sa, Lyons, Mj, Marom, D, Mcclure, Jp, Mcwilliam, R, Melancon, Sb, Mewasingh, Ld, Moutard, Ml, Nischal, Kk, Østergaard, Jr, Prendiville, J, Rasmussen, M, Rogers, Rc, Roland, D, Rosser, Em, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl Bürgi, S, Seal, S, Shalev, Sa, Sierra Corcoles, C, Sinha, Gp, Soler, D, Spiegel, R, Stephenson, Jbp, Tacke, U, Tan, T, Till, M, Tolmie, Jl

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17846997; info:eu-repo/semantics/altIdentifier/wos/000249307600013; volume:81; firstpage:713; lastpage:725; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11386/3949697Test

الإتاحة: https://doi.org/10.1086/521373Test
http://hdl.handle.net/11386/3949697Test

المؤلفون: Ioannidis, AS, Forrest, M, Nischal, KK, Veys, P, Davies, EG, Woodruff, G

المصدر: Scopus ; http://www.scopus.com/home.urlTest

وصف الملف: metadata

العلاقة: BRITISH JOURNAL OF OPHTHALMOLOGY, 2004, 88 (12), pp. 1601-1602; http://hdl.handle.net/2381/12349Test

الإتاحة: https://doi.org/10.1136/bjo.2004.044057Test
http://hdl.handle.net/2381/12349Test

المؤلفون: Liasis, A, Walters, B, Thompson, D, Smith, K, Hayward, R, Nischal, KK

المصدر: CHILD NERV SYST , 27 (8) pp. 1289-1296. (2011)

مصطلحات موضوعية: Craniosynostosis, Visual evoked potential, Visual field, Intracranial pressure, Optic disc, RAISED INTRACRANIAL-PRESSURE, SYNDROMIC CRANIOSYNOSTOSIS, COMPLEX CRANIOSYNOSTOSIS, KINETIC PERIMETRY, OPTIC-NERVE, INFANTS, HYDROCEPHALUS, HYPERTENSION, SURGERY, SUTURE, psy, socio

العلاقة: http://discovery.ucl.ac.uk/1336850Test/

الإتاحة: http://discovery.ucl.ac.uk/1336850Test/