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Multiple endocrine neoplasia type 1 (MEN1) 5′UTR deletion, in MEN1 family, decreases menin expression by Kooblall, KG, Boon, H, Cranston, T, Stevenson, M, Pagnamenta, AT, Rogers, A, Grozinsky-Glasberg, S, Richardson, T, Flanagan, DEH, Boardman-Pretty, F, Taylor, JC, Lines, KE, Thakker, RV
Published 2020Journal article -
2
Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis by Tooze, RS, Hyder, Z, Calpena, E, Pei, Y, Twigg, SRF, Cilliers, D, Morton, JEV, McCann, E, Weber, A, Wilson, LC, Need, A, Bond, A, Tavares, ALT, Brittain, H, Thomas, E, Hill, SL, Deans, ZC, Boardman-Pretty, F, Caulfield, M, Scott, RH, Wilkie, AOM
Published 2022Conference item -
3
Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects by Pagnamenta, AT, Jackson, A, Perveen, R, Beaman, G, Petts, G, Gupta, A, Hyder, Z, Chung, BH, Kan, AS, Cheung, KW, Kerstjens‐Frederikse, WS, Abbott, KM, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman‐Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady‐Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O′Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez‐Gil, D, Pullinger, J, Rahim, T
Published 2021Journal article