المؤلفون: de Boer, E, Ockeloen, CW, Kampen, RA, Hampstead, JE, Dingemans, AJM, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A-S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, HZ, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, JAC, Helm, BM, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, SA, Mathijssen, IMJ, McGowan, R, Monaghan, KG, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, GWE, Sasaki, E, Sorlin, A, van der Spek, PJ, Stegmann, APA, Swagemakers, SMA, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, SM, Wéber, M, Gilissen, C, Low, KJ, Fisher, SE, Vissers, LELM, Wong, MMK, Kleefstra, T

وصف الملف: application/pdf; application/zip; application/vnd.ms-excel

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115087/1/1-s2.0-S1098360022008164-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115087/6/1-s2.0-S1098360022008164-mmc1.zipTest; https://openaccess.sgul.ac.uk/id/eprint/115087/7/1-s2.0-S1098360022008164-mmc2.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115087/12/1-s2.0-S1098360022008164-mmc3.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/13/1-s2.0-S1098360022008164-mmc4.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/14/1-s2.0-S1098360022008164-mmc5.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/15/1-s2.0-S1098360022008164-mmc6.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/16/1-s2.0-S1098360022008164-mmc7.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/17/1-s2.0-S1098360022008164-mmc8.xlsxTest; de Boer, E; Ockeloen, CW; Kampen, RA; Hampstead, JE; Dingemans, AJM; Rots, D; Lütje, L; Ashraf, T; Baker, R; Barat-Houari, M; et al. de Boer, E; Ockeloen, CW; Kampen, RA; Hampstead, JE; Dingemans, AJM; Rots, D; Lütje, L; Ashraf, T; Baker, R; Barat-Houari, M; Angle, B; Chatron, N; Denommé-Pichon, A-S; Devinsky, O; Dubourg, C; Elmslie, F; Elloumi, HZ; Faivre, L; Fitzgerald-Butt, S; Geneviève, D; Goos, JAC; Helm, BM; Kini, U; Lasa-Aranzasti, A; Lesca, G; Lynch, SA; Mathijssen, IMJ; McGowan, R; Monaghan, KG; Odent, S; Pfundt, R; Putoux, A; van Reeuwijk, J; Santen, GWE; Sasaki, E; Sorlin, A; van der Spek, PJ; Stegmann, APA; Swagemakers, SMA; Valenzuela, I; Viora-Dupont, E; Vitobello, A; Ware, SM; Wéber, M; Gilissen, C; Low, KJ; Fisher, SE; Vissers, LELM; Wong, MMK; Kleefstra, T (2022) Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genet Med, 24 (10). pp. 2051-2064. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2022.06.007Test SGUL Authors: Elmslie, Frances

الإتاحة: https://doi.org/10.1016/j.gim.2022.06.007Test
https://openaccess.sgul.ac.uk/id/eprint/115087Test/
https://openaccess.sgul.ac.uk/id/eprint/115087/1/1-s2.0-S1098360022008164-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115087/6/1-s2.0-S1098360022008164-mmc1.zipTest
https://openaccess.sgul.ac.uk/id/eprint/115087/7/1-s2.0-S1098360022008164-mmc2.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115087/12/1-s2.0-S1098360022008164-mmc3.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115087/13/1-s2.0-S1098360022008164-mmc4.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115087/14/1-s2.0-S1098360022008164-mmc5.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115087/15/1-s2.0-S1098360022008164-mmc6.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115087/16/1-s2.0-S1098360022008164-mmc7.xlsxTest

المؤلفون: De Boer, E., Ockeloen, C., Kampen, R., Hampstead, J., Dingemans, A., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H., Faivre, L., Fitzgerald-Butt, S., Geneviève, D., Goos, J., Helm, B., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S., Mathijssen, I., McGowan, R., Monaghan, K., Odent, S., Pfundt, R., Putoux, A., Van Reeuwijk, J., Santen, G., Sasaki, E., Sorlin, A., Van der Spek, P., Stegmann, A., Swagemakers, S., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S., Wéber, M., Gilissen, C., Low, K., Fisher, S., Vissers, L., Wong, M., Kleefstra, T.

المصدر: Genetics in Medicine

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-000A-B956-5Test; http://hdl.handle.net/21.11116/0000-000B-325E-4Test; http://hdl.handle.net/21.11116/0000-000E-066F-0Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.06.007Test
http://hdl.handle.net/21.11116/0000-000A-B956-5Test
http://hdl.handle.net/21.11116/0000-000B-325E-4Test
http://hdl.handle.net/21.11116/0000-000E-066F-0Test

المؤلفون: Boer, E. de, Ockeloen, C.W., Kampen, R.A., Hampstead, J.E., Dingemans, A.J.M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A.S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H.Z., Faivre, L., Fitzgerald-Butt, S., Geneviéve, D., Goos, J.A.C., Helm, B.M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S.A., Mathijssen, I.M.J., McGowan, R., Monaghan, K.G., Odent, S., Pfundt, R., Putoux, A., Reeuwijk, J. van, Santen, G.W.E., Sasaki, E., Sorlin, A., Spek, P.J. van der, Stegmann, A.P.A., Swagemakers, S.M.A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S.M., Wéber, M., Gilissen, C., Low, K.J., Fisher, S.E., Vissers, L.E.L.M., Wong, M.M.K., Kleefstra, T.

المصدر: Genetics in Medicine

وصف الملف: application/pdf

العلاقة: https://www.sciencedirect.com/science/article/pii/S1098360023009784?via%3DihubTest; lumc-id: 185116162; https://hdl.handle.net/1887/3736229Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.100962Test
https://hdl.handle.net/1887/3736229Test
https://www.sciencedirect.com/science/article/pii/S1098360023009784?via%3DihubTest

المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736Test

المؤلفون: Boer, E. de, Ockeloen, C.W., Kampen, R.A., Hampstead, J.E., Dingemans, A.J.M., Rots, D., Lutje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denomme-Pichon, A.S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H.Z., Faivre, L., Fitzgerald-Butt, S., Genevieve, D., Goos, J.A.C., Helm, B.M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S.A., Mathijssen, I.M.J., McGowan, R., Monaghan, K.G., Odent, S., Pfundt, R., Putoux, A., Reeuwijk, J. van, Santen, G.W.E., Sasaki, E., Sorlin, A., Spek, P.J. van der, Stegmann, A.P.A., Swagemakers, S.M.A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S.M., Weber, M., Gilissen, C., Low, K.J., Fisher, S.E., Vissers, L.E.L.M., Wong, M.M.K., Kleefstra, T.

المصدر: Genetics in Medicine

مصطلحات موضوعية: ANKRD11, Genotype-phenotype study, KBG syndrome, Missense variants, Neurodevelopmental disorders

وصف الملف: application/pdf

العلاقة: lumc-id: 176394463; https://hdl.handle.net/1887/3561457Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.06.007Test
https://hdl.handle.net/1887/3561457Test

المؤلفون: Fitzgerald‐Butt, S. M.^1,2,3, Bodine, A.⁴, Fry, K. M.¹, Ash, J.⁵, Zaidi, A. N.⁶, Garg, V.^1,2,3, Gerhardt, C. A.^3,7, McBride, K. L.^1,3

المصدر: Clinical Genetics. Feb2016, Vol. 89 Issue 2, p235-243. 9p. 4 Charts, 1 Graph.

مصطلحات موضوعية: *GENETIC research, *BIOLOGY, *EMBRYOLOGY, *TEENAGERS, *ADULTS