المؤلفون: Viora‐Dupont, E., Denommé‐Pichon, A., Chevarin, M., Patat, O., Willems, M., Bourgon, N., Bruel, A., Aubert‐Mucca, M., Galinier, M., Itier, R., Decramer, S., Piton, A., Gerard, B., Billon, C., Jeunemaitre, X., Duffourd, Y., Callier, P., Thauvin, C., Philippe, C., Faivre, L., Albuisson, J., Vitobello, A.

المساهمون: European Commission

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 11, page 2728-2735 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63394Test

المؤلفون: Lavillaureix, A., Rollier, P., Kim, A., Panasenkava, V., De Tayrac, M., Carré, W., Guyodo, H., Faoucher, M., Poirel, E., Akloul, L., Quelin, C., Whalen, S., Bos, J., Broekema, M., Van Hagen, J. M., Grand, K., Allen-Sharpley, M., Magness, E., Mclean, S., Kayserili, H., Altunoglu, U., En Qi Chong, A., Xue, S., Jeanne, M., Almontashiri, N., Habhab, W., Vanlerberghe, Clemence, Faivre, L., Viora Dupont, E., Philippe, C., Safraou, H., Laffargue, F., Mittendorf, L., Abou Jamra, R., Patil, S. J., Dalal, A., Sarma, A. S., Keren, B., Reversade, B., Dubourg, C., Odent, S., Dupé, V.

المساهمون: Université de Lille, CHU Lille

العلاقة: Genet Med; http://hdl.handle.net/20.500.12210/114219Test

الإتاحة: https://doi.org/20.500.12210/114219Test
https://hdl.handle.net/20.500.12210/114219Test

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: Aerden, M., Denommé-Pichon, A.S., Bonneau, D., Bruel, A.L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Mau-Them, F.T., Viora-Dupont, E., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P.Y., Julia, S., Philippe, A., Schaefer, E., Koene, S., Ruivenkamp, C., Hoffer, M., Legius, E., Theunis, M., Keren, B., Buratti, J., Charles, P., Courtin, T., Misra-Isrie, M., Haelst, M. van, Waisfisz, Q., Wieczorek, D., Schmetz, A., Herget, T., Kortüm, F., Lisfeld, J., Debray, F.G., Bramswig, N.C., Atallah, I., Fodstad, H., Jouret, G., Almoguera, B., Tahsin-Swafiri, S., Santos-Simarro, F., Palomares-Bralo, M., López-González, V., Kibaek, M., Torring, P.M., Renieri, A., Bruno, L.P., Ounap, K., Wojcik, M., Hsieh, T.C., Krawitz, P., Esch, H. van

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

العلاقة: https://www.nature.com/articles/s41431-023-01307-xTest; lumc-id: 185870270; https://hdl.handle.net/1887/3750384Test

الإتاحة: https://doi.org/10.1038/s41431-023-01307-xTest
https://hdl.handle.net/1887/3750384Test
https://www.nature.com/articles/s41431-023-01307-xTest

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