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Browsing by Author "O'Connor, B. C."

Browsing by Author "O'Connor, B. C."

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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Mirzaa, G.; Timms, A. E.; Conti, V.; Boyle, E. A.; Girisha, K. M.; Martin, B.; Kircher, M.; Olds, C.; Juusola, J.; Inestrosa Cantín, Nibaldo; Aracena, M.; Collins, S.; Park, K.; Carter, M.; Glass, I.; Krogeloh-Mann, I.; Chitayat, D.; Parikh, A. S.; Bradshaw, R.; Torti, E.; Braddock, S.; Burke, L.; Ghedia, S.; Stephan, M.; Stewart, F.; Prasad, C.; Napier, M.; Saitta, S.; Straussberg, R.; Gabbett, M.; O'Connor, B. C.; Keegan, C. E.; Yin, L. J.; Lai, A. H. M.; Martin, N.; McKinnon, M.; Addor, M. C.; Boccuto, L.; Schwartz, C. E.; Lanoel, A.; Conway, R. L.; Devriendt, K.; Tatton-Brown, K.; Pierpont, M. E.; Painter, M.; Worgan, L.; Reggin, J.; Hennekam, R.; Tsuchiya, K.; Pritchard, C. C.; Gripp, K. W.; Cordisco, M.; Van Esch, H.; Garavelli, L.; Curry, C.; Goriely, A.; Kayserilli, H.; Shendure, J.; Graham, J.; Guerrini, R.; Dobyns, W. B. (2016)

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