Zobrazeno 1 - 10
of 735
pro vyhledávání: '"Taylor, RL"'
Autor:
Poulter, JA, Gravett, MSC, Taylor, RL, Fujinami, K, De Zaeytijd, J, Bellingham, J, Rehman, AU, Hayashi, T, Kondo, M, Rehman, A, Ansar, M, Donnelly, D, Toomes, C, Ali, M, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere, E, Leroy, BP, Davies, NP, Henderson, RH, Webster, AR, Rivolta, C, Mahroo, OA, Arno, G, Black, GCM, McKibbin, M, Harris, SA, Khan, KN, Inglehearn, CF
Biallelic mutations in G‐Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in‐depth bioin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::133dcfc6b435d7d289822b9ed48e03fb
https://eprints.whiterose.ac.uk/168583/1/humu.24140.pdf
https://eprints.whiterose.ac.uk/168583/1/humu.24140.pdf
Autor:
Taylor, RL, Poulter, JA, Downes, SM, McKibbin, M, Khan, KN, Inglehearn, CF, Webster, AR, Hardcastle, AJ, Michaelides, M, Bishop, PN, Clark, SJ, Black, GC, UKIRDC
Purpose: To characterise the molecular mechanism underpinning early-onset macular drusen (EOMD), a phenotypically severe sub-type of age-related macular degeneration (AMD), in a sub-group of patients. Design: Multi-centre case series, in vitro experi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::b8fce6b5d01e65352c2a059d6b463da9
Publikováno v:
Scipedia Open Access
Scipedia SL
Scipedia SL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::282a1265d2ba99e03b84d114b5a3fc78
https://www.scipedia.com/public/Taylor_et_al_1995a
https://www.scipedia.com/public/Taylor_et_al_1995a
Autor:
Taylor, RL
Publikováno v:
Scipedia Open Access
Scipedia SL
Scipedia SL
This paper addresses the coupled flexible and rigid body response of solids undergoing large motions and deformations. The formulation is presented in a form which is free of rotation parameters and thus avoids the need of finding compatible integrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::115535739c6b7015dcd5998b00da2b79
https://www.scipedia.com/public/Taylor_2000a
https://www.scipedia.com/public/Taylor_2000a
Autor:
Taylor, RL
This report summarizes the formulation for a large displacement formulation of a membrance composed of three-node triangular elements. A formulation in terms of the deformation gradient is first constructed in terms of nodal variables. In particular,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4855::f6fbcd33ef5c3d60a066fa36f273772e
https://www.scipedia.com/public/Taylor_2001a
https://www.scipedia.com/public/Taylor_2001a
Publikováno v:
Scipedia Open Access
Scipedia SL
Scipedia SL
The paper presents a fully meshless procedure fo solving partial differential equations. The approach termed generically the ‘finite point method’ is based on a weighted least square interpolation of point data and point collocation for evaluatin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7d3e4aa58c145e205e2574faeef71a44
https://www.scipedia.com/public/Onate_et_al_1996a
https://www.scipedia.com/public/Onate_et_al_1996a
Professor E. M. Alf Samuelsson from Chalmers University, Göteborg, Sweden, died on the 3rd of June 2005 at the age of 75 after a lengthy illness. Professor Samuelsson was an engineer with Professor Sven-Olof Asplund’s ConstructionCompany from 1952
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4855::faba42deec60d6877faf70d280764c69
https://www.scipedia.com/public/Wiberg_et_al_2006a
https://www.scipedia.com/public/Wiberg_et_al_2006a
Autor:
Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM
Publikováno v:
American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6
American journal of human genetics, vol 102, iss 6
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379
http://hdl.handle.net/1887/79379
Autor:
Taylor, RL, Arno, G, Poulter, JA, Khan, KN, Morarji, J, Hull, S, Pontikos, N, Rueda Martin, A, Smith, KR, Ali, M, Toomes, C, McKibbin, M, Clayton-Smith, J, Grunewald, S, Michaelides, M, Moore, AT, Hardcastle, AJ, Inglehearn, CF, Webster, AR, Black, GC
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::0f1bb0f1e78f5cf654ea8e5950fe3993
https://eprints.whiterose.ac.uk/113605/7/jamaophthalmology_Taylor_2017_oi_170004.pdf
https://eprints.whiterose.ac.uk/113605/7/jamaophthalmology_Taylor_2017_oi_170004.pdf
Publikováno v:
Child: Care, Health & Development. Sep2010, Vol. 36 Issue 5, p663-669. 7p.
