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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Pagnamenta, AT, Camps, C, Giacopuzzi, E, Taylor, JM, Hashim, M, Calpena, E, Kaisaki, PJ, Hashimoto, A, Yu, J, Sanders, E, Schwessinger, R, Hughes, JR, Lunter, G, Dreau, H, Ferla, M, Lange, L, Kesim, Y, Ragoussis, V, Vavoulis, DV, Allroggen, H, Ansorge, O, Babbs, C, Banka, S, Baños-Piñero, B, Beeson, D, Ben-Ami, T, Bennett, DL, Bento, C, Blair, E, Brasch-Andersen, C, Bull, KR, Cario, H, Cilliers, D, Conti, V, Davies, EG, Dhalla, F, Dacal, BD, Dong, Y, Dunford, JE, Guerrini, R, Harris, AL, Hartley, J, Hollander, G, Javaid, K, Kane, M, Kelly, D, Kelly, D, Knight, SJL, Kreins, AY, Kvikstad, EM, Lines, KE, Lord, SR, Lu, X, Marsden, B, Ormondroyd, E, Stevenson, M, Twigg, SRF, Uhlig, HH, Watkins, H, Schuh, AH, Wilkie, AOM, Taylor, JC
Published 2023Journal article