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1دورية أكاديمية
المؤلفون: Smith, CEL, Laugel-Haushalter, V, Hany, U, Best, S, Taylor, RL, Poulter, JA, Wortmann, SB, Feichtinger, RG, Mayr, JA, Al Bahlani, S, Nikolopoulos, G, Rigby, A, Black, GC, Watson, CM, Mansour, S, Inglehearn, CF, Mighell, AJ, Bloch-Zupan, A, UK Inherited Retinal Disease Consortium, Genomics England Resear
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.acTest.uk/id/eprint/116451/11/jmg-2023-109728.full.pdf; https://openaccess.sgul.acTest.uk/id/eprint/116451/6/PlexinB2%20proof%20paper.pdf; Smith, CEL; Laugel-Haushalter, V; Hany, U; Best, S; Taylor, RL; Poulter, JA; Wortmann, SB; Feichtinger, RG; Mayr, JA; Al Bahlani, S; et al. Smith, CEL; Laugel-Haushalter, V; Hany, U; Best, S; Taylor, RL; Poulter, JA; Wortmann, SB; Feichtinger, RG; Mayr, JA; Al Bahlani, S; Nikolopoulos, G; Rigby, A; Black, GC; Watson, CM; Mansour, S; Inglehearn, CF; Mighell, AJ; Bloch-Zupan, A; UK Inherited Retinal Disease Consortium, Genomics England Resear (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. J Med Genet. ISSN 1468-6244 https://doi.org/10.1136/jmg-2023-109728Test SGUL Authors: Mansour, Sahar
الإتاحة: https://doi.org/10.1136/jmg-2023-109728Test
https://openaccess.sgul.acTest.uk/id/eprint/116451/
https://openaccess.sgul.acTest.uk/id/eprint/116451/11/jmg-2023-109728.full.pdf
https://openaccess.sgul.acTest.uk/id/eprint/116451/6/PlexinB2%20proof%20paper.pdf -
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.acTest.uk/190501/3/PIIS0161642022005656.pdf; 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
الإتاحة: https://eprints.whiterose.acTest.uk/190501/
https://eprints.whiterose.acTest.uk/190501/3/PIIS0161642022005656.pdf -
3دورية أكاديمية
المؤلفون: Khan, Kamron N, Robson, Anthony, Mahroo, Omar AR, Arno, Gavin, Inglehearn, Chris F, Armengol, Monica, Waseem, Naushin, Holder, Graham E, Carss, Keren J, Raymond, Lucy F, Webster, Andrew R, Moore, Anthony T, McKibbin, Martin, van Genderen, Maria M, Poulter, James A, Michaelides, Michel, UK Inherited Retinal Disease Consortium
المصدر: European Journal of Human Genetics. 26(5)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Clinical Research, Rare Diseases, Neurosciences, Neurodegenerative, Genetics, Eye Disease and Disorders of Vision, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Eye, Adolescent, Adult, Alleles, Child, Child, Preschool, Electronic Health Records, Eye Proteins, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Testing, Humans, Infant, Infant, Newborn, Macular Degeneration, Male, Membrane Proteins, Nerve Tissue Proteins, Retinal Photoreceptor Cell Outer Segment, Young Adult, UK Inherited Retinal Disease Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5km8c8t3Test
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4دورية أكاديمية
المؤلفون: Poulter, James A., Gravett, Molly S. C., Taylor, Rachel L., Fujinami, Kaoru, De Zaeytijd, Julie, Bellingham, James, Rehman, Atta Ur, Hayashi, Takaaki, Kondo, Mineo, Rehman, Abdur, Ansar, Muhammad, Donnelly, Dan, Toomes, Carmel, Ali, Manir, De Baere, Elfride, Leroy, Bart, Davies, Nigel P., Henderson, Robert H., Webster, Andrew R., Rivolta, Carlo, Mahroo, Omar A., Arno, Gavin, Black, Graeme C. M., McKibbin, Martin, Harris, Sarah A., Khan, Kamron N., Inglehearn, Chris F., UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, missing
المصدر: HUMAN MUTATION ; ISSN: 1059-7794 ; ISSN: 1098-1004
مصطلحات موضوعية: Medicine and Health Sciences, Genetics(clinical), Genetics, CSNB, GRK1, Oguchi disease, rhodopsin, RHODOPSIN KINASE GENE, PROTEIN, MUTATION, DEFECTS, FORM, PHOTOTRANSDUCTION, PATHOGENICITY, ACTIVATION, MECHANISM, DELETION
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8720807Test; http://hdl.handle.net/1854/LU-8720807Test; http://dx.doi.org/10.1002/humu.24140Test; https://biblio.ugent.be/publication/8720807/file/8720808Test
الإتاحة: https://doi.org/10.1002/humu.24140Test
https://biblio.ugent.be/publication/8720807Test
http://hdl.handle.net/1854/LU-8720807Test
https://biblio.ugent.be/publication/8720807/file/8720808Test -
5دورية أكاديمية
المؤلفون: 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
وصف الملف: text
العلاقة: https://eprints.whiterose.acTest.uk/168583/7/humu.24140.pdf; Poulter, JA, Gravett, MSC orcid.org/0000-0001-8351-7176 , Taylor, RL et al. (26 more authors) (2021) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation, 42 (2). humu.24140. pp. 164-176. ISSN 1059-7794
الإتاحة: https://eprints.whiterose.acTest.uk/168583/
https://eprints.whiterose.acTest.uk/168583/7/humu.24140.pdf -
6دورية أكاديمية
المؤلفون: 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 Resear, 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
المصدر: Human Mutation (2020) (In press).
مصطلحات موضوعية: CSNB, GRK1, Oguchi disease, rhodopsin
وصف الملف: text
العلاقة: https://discovery.ucl.acTest.uk/id/eprint/10116238/1/humu.24140.pdf; https://discovery.ucl.acTest.uk/id/eprint/10116238/
الإتاحة: https://discovery.ucl.acTest.uk/id/eprint/10116238/1/humu.24140.pdf
https://discovery.ucl.acTest.uk/id/eprint/10116238/ -
7
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
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8دورية أكاديمية
المؤلفون: 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, UK Inherited Retinal Disease Consortium and the 100,000 Genomes
المصدر: JAMA Ophthalmology , 135 (4) pp. 339-347. (2017)
وصف الملف: text
العلاقة: https://discovery.ucl.acTest.uk/id/eprint/1544881/1/Hardcastle_retinal%20dystrophy_JAMA_aam.pdf; https://discovery.ucl.acTest.uk/id/eprint/1544881/
الإتاحة: https://discovery.ucl.acTest.uk/id/eprint/1544881/1/Hardcastle_retinal%20dystrophy_JAMA_aam.pdf
https://discovery.ucl.acTest.uk/id/eprint/1544881/ -
9دورية أكاديمية
المؤلفون: Arno, G, Holder, GE, Chakarova, C, Kohl, S, Pontikos, N, Fiorentino, A, Plagnol, V, Cheetham, ME, Hardcastle, AJ, Webster, AR, Michaelides, M, UK Inherited Retinal Disease Consortium, .
المصدر: JAMA Ophthalmology , 134 (8) pp. 924-927. (2016)
وصف الملف: text
العلاقة: https://discovery.ucl.acTest.uk/id/eprint/1499793/1/Arno_Recessive_Retinopathy.pdf; https://discovery.ucl.acTest.uk/id/eprint/1499793/
الإتاحة: https://discovery.ucl.acTest.uk/id/eprint/1499793/1/Arno_Recessive_Retinopathy.pdf
https://discovery.ucl.acTest.uk/id/eprint/1499793/ -
10دورية أكاديمية
المؤلفون: El-Asrag, M.E., Sergouniotis, P.I., McKibbin, M., Plagnol, V., Sheridan, E., Waseem, N., Abdelhamed, Z., McKeefry, Declan J., Van Schil, K., Poulter, J.A., UK Inherited Retinal Disease Consortium, Johnson, C.A., Carr, I.M., Leroy, B.P., Baere, E. de, Inglehearn, C.F., Webster, A.R., Toomes, C.l., Ali, M.
مصطلحات موضوعية: Retinal dystrophy, Macular involvement, Central visual loss, Autophagy Regulator DRAM2, Biallelic mutations, Adult base sequence, Exome, Genetics, Great Britain, Homozygote, Humans, Immunohistochemistry, Macular degeneration, Pathology, Membrane proteins, Molecular sequence data mutation, Pakistan, Ethnology, Retinal dystrophies, Sequence Aaalysis, DNA
