المؤلفون: Rieke, JM, Zhang, R, Braun, D, Yilmaz, O, Japp, AS, Lopes, FM, Pleschka, M, Hilger, AC, Schneider, S, Newman, WG, Beaman, GM, Nordenskjold, A, Ebert, AK, Promm, M, Rosch, WH, Stein, R, Hirsch, K, Schafer, FM, Schmiedeke, E, Boemers, TM, Lacher, M, Kluth, D, Gosemann, JH, Anderberg, M, Barker, G, Holmdahl, G, Lackgren, G, Keene, D, Cervellione, RM, Giorgio, E, Di Grazia, M, Feitz, WFJ, Marcelis, CLM, Van Rooij, IALM, Bokenkamp, A, Beckers, GMA, Keegan, CE, Sharma, A, Dakal, TC, Wittler, L, Grote, P, Zwink, N, Jenetzky, E, Brusco, A, Thiele, H, Ludwig, M, Schweizer, U, Woolf, AS, Odermatt, B, Reutter, H

المصدر: Frontiers in cell and developmental biology. 8:567

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144484785

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

Relation: https://openaccess.sgul.ac.uk/id/eprint/111377/1/87623.4-20170503130349-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf; 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.87623 SGUL Authors: Tatton-Brown, Katrina Louise

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/111377/
https://openaccess.sgul.ac.uk/id/eprint/111377/1/87623.4-20170503130349-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf

المؤلفون: Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT

المصدر: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: craniofacial development, patent ductus arteriosus, TRAF7, intellectual disability, blepharophimosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718

المؤلفون: Yatsenko, SA, Kruer, MC, Bader, PI, Corzo, D, Schuette, J, Keegan, CE, Nowakowska, B, Peacock, S, Cai, WW, Peiffer, DA, Gunderson, KL, Ou, Z, Chinault, AC, Cheung, SW

المصدر: Clinical Genetics ; volume 76, issue 1, page 54-62 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/j.1399-0004.2008.01115.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2008.01115.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2008.01115.x

المؤلفون: Else, T, Theisen, BK, Keegan, CE, Ferguson, DO, Hammer, GD

المصدر: Experimental and Clinical Endocrinology & Diabetes ; volume 114, issue S 1 ; ISSN 0947-7349 1439-3646

الاتاحة: http://dx.doi.org/10.1055/s-2006-932846
http://www.thieme-connect.de/DOI/DOI?10.1055/s-2006-932846

المؤلفون: Wollnik, B, Daniels, O, Shapiro, RE, Paznekas, WA, Boyadjiev, SA, Jabs, EW, Hannibal, MC, Christian, C, Dinulos, MB, Innis, JW, Keegan, CE

المساهمون: 167615

مصطلحات موضوعية: Dahili Tıp Bilimleri, GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Temel Bilimler

Relation: AMERICAN JOURNAL OF HUMAN GENETICS; Paznekas W., Boyadjiev S., Shapiro R., Daniels O., Wollnik B., Keegan C., Innis J., Dinulos M., Christian C., Hannibal M., et al., "Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia", AMERICAN JOURNAL OF HUMAN GENETICS, cilt.72, sa.2, ss.408-418, 2003; av_054fb89a-6bda-4512-ad55-fa6c30ec7699; vv_1032021; http://hdl.handle.net/20.500.12627/9450; https://doi.org/10.1086/346090; 72; 408; 418

الاتاحة: https://hdl.handle.net/20.500.12627/9450
https://doi.org/10.1086/346090