المؤلفون: Werren, Elizabeth A.^{Aff1, Aff2}, Peirent, Emily R., Jantti, Henna, Guxholli, Alba^{Aff1, Aff5}, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad^{Aff11, Aff12}, Khan, Amjad^{Aff9, Aff13}, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J.^{Aff22, Aff23}, Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E.^{Aff1, Aff5}, Srivastava, Anshika^{Aff25, IDs41419024067686_cor29}, Bielas, Stephanie L.^{Aff1, Aff5, IDs41419024067686_cor30}

المصدر: Cell Death & Disease. 15(5)

المؤلفون: Guo, H, Li, Y, Shen, L, Wang, TY, Jia, XB, Liu, LJ, Xu, T, Ou, MZ, Hoekzema, K, Wu, HD, Gillentine, MA, Liu, CY, Ni, HL, Peng, PW, Zhao, RJ, Zhang, Y, Phornphutkul, C, Stegmann, APA, Prada, CE, Hopkin, RJ, Shieh, JT, McWalter, K, Monaghan, KG, van Hasselt, PM, van Gassen, K, Bai, T, Long, M, Han, L, Quan, YT, Chen, ML, Zhang, YW, Li, KK, Zhang, QM, Tan, JQ, Zhu, TF, Liu, YN, Pang, N, Peng, J, Scott, DA, Lalani, SR, Azamian, M, Mancini, GMS, Adams, DJ, Kvarnung, M, Lindstrand, A, Nordgren, A, Pevsner, J, Osei-Owusu, IA, Romano, C, Calabrese, G, Galesi, O, Gecz, J, Haan, E, Ranells, J, Racobaldo, M, Nordenskjold, M, Madan-Khetarpal, S, Sebastian, J, Ball, S, Zou, XB, Zhao, JP, Hu, ZM, Xia, F, Liu, PF, Rosenfeld, JA, de Vries, BBA, Bernier, RA, Xu, ZQD, Li, HH, Xie, W, Hufnagel, RB, Eichler, EE, Xia, K

المصدر: Science advances. 5(9)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142108451

المؤلفون: Tran Mau-Them, F.^{Aff1, Aff2}, Guibaud, L.^{Aff3, Aff4}, Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F.^{Aff5, Aff7, Aff8}, van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T.^{Aff1, Aff2}, Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A.^{Aff15, Aff16}, Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C.^{Aff1, Aff2}, van Gassen, K., Nelson, S., Graham, Jr, J. M., Friedman, J., Faivre, L.^{Aff2, Aff10}, Lin, H. J., Thauvin-Robinet, C.^{Aff1, Aff10}, Vitobello, A.^{Aff1, Aff2}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):1008-1014

المؤلفون: Vears, D. F.^{Aff1, Aff2}, Sénécal, K., Clarke, A. J., Jackson, L., Laberge, A. M., Lovrecic, L., Piton, A., Van Gassen, K. L. I., Yntema, H. G., Knoppers, B. M., Borry, P.^{Aff1, Aff2}

المصدر: European Journal of Human Genetics. 26(1):36-43

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المؤلفون: Lehalle, D., Vabres, P., Bierhals, T., Cho, M. T., Cogne, B., Avila, M., Carmignac, V., Duplomb-Jego, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal-Valevski, A., Genevieve, D., Guimier, A., Harris, D., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., Lichtenbelt, K., Ramey, V. Loik, Pasquier, L., St-Onge, J., Sorlin, A., Thevenon, J., Torti, E., Van Gassen, K., Van Haelst, M., van Koningsbruggen, S., Riviere, J., Thauvin, C., Betschinger, J., Faivre, L.

المساهمون: Clinical genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development

المصدر: Lehalle, D, Vabres, P, Bierhals, T, Cho, M T, Cogne, B, Avila, M, Carmignac, V, Duplomb-Jego, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal-Valevski, A, Genevieve, D, Guimier, A, Harris, D, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Lichtenbelt, K, Ramey, V L, Pasquier, L, St-Onge, J, Sorlin, A, Thevenon, J, Torti, E, Van Gassen, K, Van Haelst, M, van Koningsbruggen, S, Riviere, J, Thauvin, C, Betschinger, J & Faivre, L 2019, ' De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', European Journal of Human Genetics, vol. 27, pp. 1094-1094 .
European Journal of Human Genetics, 27, 1094-1094. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d4fe488a89bd4c637dfa6db87d369dbd
https://research.vumc.nl/en/publications/32f4f126-1635-4054-a78d-8f2c1e76300a

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