Spon's practical builders' handbook / Bằng 306285 Fryer, A. W. D.

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing Bằng Malik, N, Fisher, C, Fryer, A, Goudie, DR, Krantz, I, Traeger-Synodinos, J, Gibbons, R

Cyclin D1 (CCND1) genotype is associated with tumour grade in sporadic pituitary adenomas. Bằng Simpson, D, Fryer, A, Grossman, AB, Wass, J, Pfeifer, M, Kros, J, Clayton, R, Farrell, W

Mutations in the chromatin-associated protein ATRX. Bằng Gibbons, R, Wada, T, Fisher, C, Malik, N, Mitson, M, Steensma, D, Fryer, A, Goudie, DR, Krantz, I, Traeger-Synodinos, J

CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS, WITHIN THE XQ12-]Q13.1 REGION, IN 4 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) Bằng Thomas, N, Chelly, J, Zonana, J, Davies, K, Clark, A, Roberts, S, Fielding, D, Fryer, A, Gault, J, Rack, K, Buckle, V, Monaco, A

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - ANALYSIS OF CYTOGENETIC REARRANGEMENTS IN 4 PATIENTS AND DEVELOPMENT OF A DETAILED PHYSICAL MAP WITHIN XQ12-Q13.1. Bằng Thomas, N, Chelly, J, Zonana, J, Davies, K, Clarke, A, Roberts, S, Fielding, D, Fryer, A, Gault, J, Rack, K, Buckle, V, Monaco, A

Autism, language and communication in children with sex chromosome trisomies Bằng Bishop, D, Jacobs, P, Lachlan, K, Wellesley, D, Barnicoat, A, Boyd, P, Fryer, A, Smithson, S, Metcalfe, K, Shears, D, Leggett, V, Nation, K, Scerif, G

Autism, language and communication in children with sex chromosome trisomies Bằng Bishop, D, Jacobs, P, Lachlan, K, Wellesley, D, Barnicoat, A, Boyd, P, Fryer, A, Middlemiss, P, Smithson, S, Metcalfe, K, Shears, D, Leggett, V, Nation, K, Scerif, G

Autism, language and communication in children with sex chromosome trisomies. Bằng Bishop, D, Jacobs, P, Lachlan, K, Wellesley, D, Barnicoat, A, Boyd, P, Fryer, A, Middlemiss, P, Smithson, S, Metcalfe, K, Shears, D, Leggett, V, Nation, K, Scerif, G

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Bằng Gibbons, R, Bachoo, S, Picketts, D, Aftimos, S, Asenbauer, B, Bergoffen, J, Berry, SA, Dahl, N, Fryer, A, Keppler, K, Kurosawa, K, Levin, M, Masuno, M, Neri, G, Pierpont, M, Slaney, S, Higgs, D

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism Bằng Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A, Bengani, H, Chan, C, Kayserili, H, Avci, Ş, Hennekam, R, Lampe, A, Redeker, E, Homfray, T, Ross, A, Smeland, M, Mansour, S, Parker, M, Cook, J, Splitt, M, Fisher, R, Fryer, A, Magee, A, Wilkie, A, Barnicoat, A

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Bằng Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A, Bengani, H, Chan, C, Kayserili, H, Avci, S, Hennekam, R, Lampe, A, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, M, Cook, J, Splitt, M, Fisher, R, Fryer, A, Magee, A, Wilkie, A, Barnicoat, A

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Bằng Dobson-Stone, C, Danek, A, Rampoldi, L, Hardie, R, Chalmers, R, Wood, N, Bohlega, S, Dotti, M, Federico, A, Shizuka, M, Tanaka, M, Watanabe, M, Ikeda, Y, Brin, M, Goldfarb, L, Karp, B, Mohiddin, S, Fananapazir, L, Storch, A, Fryer, A, Maddison, P, Sibon, I, Trevisol-Bittencourt, P, Singer, C, Caballero, I

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis Bằng Dobson-Stone, C, Danek, A, Rampoldi, L, Hardie, R, Chalmers, R, Wood, N, Bohlega, S, Dotti, M, Federico, A, Shizuka, M, Tanaka, M, Watanabe, M, Ikeda, Y, Brin, M, Goldfarb, L, Karp, B, Mohiddin, S, Fananapazir, L, Storch, A, Fryer, A, Maddison, P, Sibon, I, Trevisol-Bittencourt, P, Singer, C, Caballero, I

Clinical and molecular consequences of disease-associated de novo mutations in SATB2 Bằng Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, S, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnugn, M, Mehta, S, McKee, S, Whiteford, M, Stewart, F, Connell, F, Clayton-Smith, J, Mansour, S, Mohammed, S, Fryer, A, Morton, J, UK10K Consortium, Grozeva, D, Asam, T, Moore, D, Sifrim, A, McRae, J, Hurles, M, Firth, H, Raymond, F, Kini, U, Nellaker, C, DDD Study, FitzPatrick, D

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Bằng Sifrim, A, Hitz, M, Wilsdon, A, Breckpot, J, Al Turki, S, Thienpont, B, McRae, J, Fitzgerald, T, Singh, T, Swaminathan, G, Prigmore, E, Rajan, D, Abdul-Khaliq, H, Banka, S, Bauer, U, Bentham, J, Berger, F, Bhattacharya, S, Bu'Lock, F, Canham, N, Colgiu, I, Cosgrove, C, Cox, H, Daehnert, I, Daly, A, Danesh, J, Fryer, A, Gewillig, M, Hobson, E, Hoff, K, Homfray, T, Kahlert, A, Ketley, A, Kramer, H, Lachlan, K, Lampe, A, Louw, J, Manickara, A, Manase, D, McCarthy, K, Metcalfe, K, Moore, C, Newbury-Ecob, R, Omer, S, Ouwehand, W, Park, S, Parker, M, Pickardt, T, Pollard, M, Robert, L, Roberts, D, Sambrook, J, Setchfield, K, Stiller, B, Thornborough, C, Toka, O, Watkins, H, Williams, D, Wright, M, Mital, S, Daubeney, P, Keavney, B, Goodship, J, Abu-Sulaiman, R, Klaassen, S, Wright, C, Firth, H, Barrett, J, Devriendt, K, FitzPatrick, D, Brook, J, Hurles, M