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First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities by Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H
Published 2019-07-01
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2
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes by Mulder, PA, van Balkom, IDC, Landlust, AM, Priolo, M, Menke, LA, Acero, IH, Alkuraya, FS, Arias, P, Bernardini, L, Bijlsma, EK, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, NH, Fahrner, JA, Foster, A, González, NG, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Kooblall, KG, Lapunzina, P, Liebelt, J, Lynch, SA, Maas, SM, Mammì, C, Mathijssen, IB, McKee, S, Mirzaa, GM, Montgomery, T, Neubauer, D, Neumann, TE, Pintomalli, L, Pisanti, MA, Plomp, AS, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, RV
Published 2020Journal article -
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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 by Pairo-Castineira, E, Rawlik, K, Bretherick, AD, Qi, T, Wu, Y, Nassiri, I, McConkey, GA, Zechner, M, Klaric, L, Griffiths, F, Oosthuyzen, W, Kousathanas, A, Richmond, A, Millar, J, Russell, CD, Malinauskas, T, Thwaites, R, Morrice, K, Keating, S, Maslove, D, Nichol, A, Semple, MG, Knight, J, Shankar-Hari, M, Summers, C, Hinds, C, Horby, P, Ling, L, McAuley, D, Montgomery, H, Openshaw, PJM, Begg, C, Walsh, T, Tenesa, A, Flores, C, Riancho, JA, Rojas-Martinez, A, Lapunzina, P, Yang, J, Ponting, CP, Wilson, JF, Vitart, V, Abedalthagafi, M, Luchessi, AD, Parra, EJ, Cruz, R, Carracedo, A, Fawkes, A, Murphy, L, Rowan, K, Pereira, AC, Law, A, Fairfax, B, Clohisey Hendry, S, Baillie, JK, Klenerman, P, Mentzer, AJ, Merson, L, Sigfrid, L, Stuart, D, Carson, G, Lee, J, Plotkin, D
Published 2023Journal article