المؤلفون: Mirzaa, G, Timms, AE, Conti, V, Boyle, EA, Girisha, KM, Martin, B, Kircher, M, Olds, C, Juusola, J, Collins, S, Park, K, Carter, M, Glass, I, Krägeloh-Mann, I, Chitayat, D, Parikh, AS, 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, BC, Keegan, CE, Yin, LJ, Lai, AHM, Martin, N, McKinnon, M, Addor, M-C, Boccuto, L, Schwartz, CE, Lanoel, A, Conway, RL, Devriendt, K, Tatton-Brown, K, Pierpont, ME, Painter, M, Worgan, L, Reggin, J, Hennekam, R, Tsuchiya, K, Pritchard, CC, Aracena, M, Gripp, KW, Cordisco, M, Van Esch, H, Garavelli, L, Curry, C, Goriely, A, Kayserilli, H, Shendure, J, Graham, J, Guerrini, R, Dobyns, WB

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111377/1/87623.4-20170503130349-covered-253bed37ca4c1ab43d105aefdf7b5536.pdfTest; Mirzaa, G; Timms, AE; Conti, V; Boyle, EA; Girisha, KM; Martin, B; Kircher, M; Olds, C; Juusola, J; Collins, S; et al. Mirzaa, G; Timms, AE; Conti, V; Boyle, EA; Girisha, KM; Martin, B; Kircher, M; Olds, C; Juusola, J; Collins, S; Park, K; Carter, M; Glass, I; Krägeloh-Mann, I; Chitayat, D; Parikh, AS; 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, BC; Keegan, CE; Yin, LJ; Lai, AHM; Martin, N; McKinnon, M; Addor, M-C; Boccuto, L; Schwartz, CE; Lanoel, A; Conway, RL; Devriendt, K; Tatton-Brown, K; Pierpont, ME; Painter, M; Worgan, L; Reggin, J; Hennekam, R; Tsuchiya, K; Pritchard, CC; Aracena, M; Gripp, KW; Cordisco, M; Van Esch, H; Garavelli, L; Curry, C; Goriely, A; Kayserilli, H; Shendure, J; Graham, J; Guerrini, R; Dobyns, WB (2016) PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight, 1 (9). e87623. ISSN 2379-3708 https://doi.org/10.1172/jci.insight.87623Test SGUL Authors: Tatton-Brown, Katrina Louise

الإتاحة: https://doi.org/10.1172/jci.insight.87623Test
https://openaccess.sgul.ac.uk/id/eprint/111377Test/
https://openaccess.sgul.ac.uk/id/eprint/111377/1/87623.4-20170503130349-covered-253bed37ca4c1ab43d105aefdf7b5536.pdfTest

المؤلفون: Riviere, JB, Mirzaa, GM, O'Roak, BJ, Beddaoui, M, Alcantara, D, Conway, RL, St-Onge, J, Schwartzentruber, JA, Gripp, KW, Nikkel, SM, Worthylake, T, Sullivan, CT, Ward, TR, Butler, HE, Kramer, NA, Albrecht, B, Armour, CM, Armstrong, L, Caluseriu, O, Cytrynbaum, C, Drolet, BA, Innes, AM, Lauzon, JL, Lin, AE, Verheijen - Mancini, Grazia, Meschino, WS, Reggin, JD, Saggar, AK, Lerman-Sagie, T, Uyanik, G, Weksberg, R, Zirn, B, Beaulieu, CL, Majewski, J, Bulman, DE, O'Driscoll, M, Shendure, J, Graham, JM, Boycott, KM, Dobyns, WB

المصدر: Riviere , JB , Mirzaa , GM , O'Roak , BJ , Beddaoui , M , Alcantara , D , Conway , RL , St-Onge , J , Schwartzentruber , JA , Gripp , KW , Nikkel , SM , Worthylake , T , Sullivan , CT , Ward , TR , Butler , HE , Kramer , NA , Albrecht , B , Armour , CM , Armstrong , L , Caluseriu , O , Cytrynbaum , C , Drolet , BA , Innes , AM , Lauzon , JL , Lin , AE , Verheijen - Mancini ....

الإتاحة: https://doi.org/10.1038/ng.2331Test
https://pure.eur.nl/en/publications/7a782c7e-154a-49f7-9d17-9a1c3084d668Test
http://hdl.handle.net/1765/57145Test

المؤلفون: Riviere, JB, Mirzaa, GM, O'Roak, BJ, Beddaoui, M, Alcantara, D, Conway, RL, St-Onge, J, Schwartzentruber, JA, Gripp, KW, Nikkel, SM, Worthylake, T, Sullivan, CT, Ward, TR, Butler, HE, Kramer, NA, Albrecht, B, Armour, CM, Armstrong, L, Caluseriu, O, Cytrynbaum, C, Drolet, BA, Innes, AM, Lauzon, JL, Lin, AE, Verheijen - Mancini, Grazia, Meschino, WS, Reggin, JD, Saggar, AK, Lerman-Sagie, T, Uyanik, G, Weksberg, R, Zirn, B, Beaulieu, CL, Majewski, J, Bulman, DE, O'Driscoll, M, Shendure, J, Graham, JM, Boycott, KM, Dobyns, WB

المصدر: Riviere , JB , Mirzaa , GM , O'Roak , BJ , Beddaoui , M , Alcantara , D , Conway , RL , St-Onge , J , Schwartzentruber , JA , Gripp , KW , Nikkel , SM , Worthylake , T , Sullivan , CT , Ward , TR , Butler , HE , Kramer , NA , Albrecht , B , Armour , CM , Armstrong , L , Caluseriu , O , Cytrynbaum , C , Drolet , BA , Innes , AM , Lauzon , JL , Lin , AE , Verheijen - Mancini ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

العلاقة: https://pure.eur.nl/en/publications/7a782c7e-154a-49f7-9d17-9a1c3084d668Test

الإتاحة: https://doi.org/10.1038/ng.2331Test
https://pure.eur.nl/en/publications/7a782c7e-154a-49f7-9d17-9a1c3084d668Test
http://hdl.handle.net/1765/57145Test