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The 100,000 genomes pilot on rare disease diagnosis in healthcare – a preliminary report by Smedley, D, Smith, KR, Rueda Martin, A, Buchanan, J, Wordsworth, S, de Burca, A, Davies, J, Crichton, C, Welch, J, Woods, K, Campbell, C, Camps, C, Gibson, K, Lester, T, Patel, S, Roy, NBA, Sen, A, Németh, AH, Taylor, J, Caulfield, M
Published 2021Journal article -
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome by Pagnamenta, A, Kaisaki, P, Bennett, F, Burkitt-Wright, E, Martin, H, Ferla, M, Taylor, J, Gompertz, L, Lahiri, N, Tatton-Brown, K, Newbury-Ecob, R, Henderson, A, Joss, S, Weber, A, Carmichael, J, Turnpenny, P, McKee, S, Forzano, F, Ashraf, T, Bradbury, K, Shears, D, Kini, U, De Burca, A, The DDD Study, Blair, E, Taylor, J, Stewart, H
Published 2019Journal article