Showing 1 - 6 results of 6 for search 'McKibbin M', query time: 0.03s
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Characterization of CDH3-related congenital hypotrichosis with juvenile macular dystrophy by Hull, S, Arno, G, Robson, A, Broadgate, S, Plagnol, V, McKibbin, M, Halford, S, Michaelides, M, Holder, G, Moore, A, Khan, K, Webster, A
Published 2016Journal article -
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Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. by Davidson, A, Millar, I, Urquhart, J, Burgess-Mullan, R, Shweikh, Y, Parry, N, O'Sullivan, J, Maher, G, McKibbin, M, Downes, S, Lotery, A, Jacobson, S, Brown, P, Black, G, Manson, F
Published 2009Journal article -
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Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen. by Taylor, RL, Poulter, JA, Downes, SM, McKibbin, M, Khan, KN, Inglehearn, CF, Webster, AR, Hardcastle, AJ, Michaelides, M, Bishop, PN, Clark, SJ, Black, GC, United Kingdom Inherited Retinal Dystrophy Consortium, Halford, S
Published 2019Journal article -
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The natural history of Leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene by Hahn, LC, Georgiou, M, Almushattat, H, van Schooneveld, MJ, de Carvalho, ER, Wesseling, NL, Ten Brink, JB, Florijn, RJ, Lissenberg-Witte, BI, Strubbe, I, van Cauwenbergh, C, de Zaeytijd, J, Walraedt, S, de Baere, E, Mukherjee, R, McKibbin, M, Meester-Smoor, MA, Thiadens, AAHJ, Al-Khuzaei, S, Akyol, E, Lotery, AJ, van Genderen, MM, Norel, JO-V, Ingeborgh van den Born, L, Hoyng, CB, Klaver, CCW, Downes, SM, Bergen, AA, Leroy, BP, Michaelides, M, Boon, CJF
Published 2022Journal article