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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation by Ragoussis, V, Pagnamenta, AT, Haines, RL, Giacopuzzi, E, McClatchey, MA, Sampson, JR, Suri, M, Gardham, A, Cobben, J-M, Osio, D, Fry, AE, Genomics England Research Consortium, Taylor, JC
Published 2021Journal article -
2
The phenotypic continuum of ATP1A3-related disorders by Vezyroglou, A, Akilapa, R, Barwick, K, Koene, S, Brownstein, CA, Holder-Espinasse, M, Fry, AE, Nemeth, AH, Tofaris, GK, Hay, E, Hughes, I, Mansour, S, Mordekar, SR, Splitt, M, Turnpenny, PD, Demetriou, D, Koopmann, TT, Ruivenkamp, CAL, Agrawal, PB, Carr, L, Clowes, V, Ghali, N, Holder, SE, Radley, J, Male, A, Sisodiya, SM, Kurian, MA, Cross, JH, Balasubramanian, M
Published 2022Journal article -
3
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria by Fry, AE, Fawcett, KA, Zelnik, N, Yuan, H, Thompson, BAN, Shemer-Meiri, L, Cushion, TD, Mugalaasi, H, Sims, D, Stoodley, N, Chung, S-K, Rees, MI, Patel, CV, Brueton, LA, Layet, V, Giuliano, F, Kerr, MP, Banne, E, Meiner, V, Lerman-Sagie, T, Helbig, KL, Kofman, LH, Knight, KM, Chen, W, Kannan, V, Hu, C, Kusumoto, H, Zhang, J, Swanger, SA, Shaulsky, GH, Mirzaa, GM, Muir, AM, Mefford, HC, Dobyns, WB, Mackenzie, AB, Mullins, JGL, Lemke, JR, Bahi-Buisson, N, Traynelis, SF, Iago, HF, Pilz, DT
Published 2018Journal article