Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, J F, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O’Donovan, P, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, Alexander, Tanguy, M, Taylor-Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Balasubramanian, M, Bubbear, J, Burren, C, Calder, A, Fairhurst, J, Gevers, E, Hunt, D, Irving, M, Javaid, MK, Mohsin, Z, Offiah, A C, Pagnamenta, AT, Sabir, A, Shears, D, Smithson, S F, Suri, M, Taylor, JC, Wilkie, A, Wilson, L
Published in Journal of medical genetics (01.05.2023)
Published in Journal of medical genetics (01.05.2023)
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Concurrent Oral 3 – Genetics and Epidemiology [OP16–OP23]
Holliday, Kate L., McBeth, John, Thomson, Wendy, Goodson, Nicola J., Smith, Blair H., Goebel, Andreas, Goulston, Lyndsey M., Soni, Anushka, White, Kirsten M., Kiran, Amit, Javaid, Mohammed K., Hart, Deborah J., Spector, Timothy D., Arden, Nigel K., Stahl, Eli, Eyre, Stephen, Hinks, Anne, Barton, Anne, Flynn, Edward, Lee, Annette, Coblyn, Jonathan, Xie, Gang, Padyukov, Leonid, Chen, Robert, Siminovitch, Katherine, Klareskog, Lars, Raychaudhuri, Soumya, Gregersen, Peter, Plenge, Robert, Worthington, Jane, Chen, Ying, Dawes, Peter T., Mattey, Derek L., Camacho, Elizabeth, Farragher, Tracey, Lunt, Mark, Verstappen, Suzanne, Bunn, Diane, Symmons, Deborah, Mirjafari, Hoda, Farragher, Tracey, Verstappen, Suzanne M., Charlton-Menys, Valentine, Bunn, Diane, Marshall, Tarnya, Edlin, Helena, Wilson, Paddy, Symmons, Deborah P., Bruce, Ian N., Hinks, Anne, Moncrieffe, Halima, Martin, Paul, Lal, Sham D., Ursu, Simona, Kassoumeri, Laura, Wedderburn, Lucy R., Thomson, Wendy
Published in Rheumatology (Oxford, England) (01.04.2010)
Published in Rheumatology (Oxford, England) (01.04.2010)
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