المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., Van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.

المساهمون: Université de Lille, CHU Lille, Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden KUH, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP

مصطلحات موضوعية: Gene families, hnRNPs, Neurodevelopmental disorders, Cortex development

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

العلاقة: Genome Medicine; Genome Med; http://hdl.handle.net/20.500.12210/84177Test

الإتاحة: https://doi.org/20.500.12210/84177Test
https://hdl.handle.net/20.500.12210/84177Test

المؤلفون: Gillentine, MA, Wang, TY, Hoekzema, K, Rosenfeld, J, Liu, PF, Guo, H, Kim, CN, De Vries, BBA, Vissers, LELM, Nordenskjold, M, Kvarnung, M, Lindstrand, A, Nordgren, A, Gecz, J, Iascone, M, Cereda, A, Scatigno, A, Maitz, S, Zanni, G, Bertini, E, Zweier, C, Schuhmann, S, Wiesener, A, Pepper, M, Panjwani, H, Torti, E, Abid, F, Anselm, I, Srivastava, S, Atwal, P, Bacino, CA, Bhat, G, Cobian, K, Bird, LM, Friedman, J, Wright, MS, Callewaert, B, Petit, F, Mathieu, S, Afenjar, A, Christensen, CK, White, KM, Elpeleg, O, Berger, I, Espineli, EJ, Fagerberg, C, Brasch-Andersen, C, Hansen, LK, Feyma, T, Hughes, S, Thiffault, I, Sullivan, B, Yan, S, Keller, K, Keren, B, Mignot, C, Kooy, F, Meuwissen, M, Basinger, A, Kukolich, M, Philips, M, Ortega, L, Drummond-Borg, M, Lauridsen, M, Sorensen, K, Lehman, A, Lopez-Rangel, E, Levy, P, Lessel, D, Lotze, T, Madan-Khetarpal, S, Sebastian, J, Vento, J, Vats, D, Benman, LM, Mckee, S, Mirzaa, GM, Muss, C, Pappas, J, Peeters, H, Romano, C, Elia, M, Galesi, O, Simon, MEH, van Gassen, KLI, Simpson, K, Stratton, R, Syed, S, Thevenon, J, Palafoll, IV, Vitobello, A, Bournez, M, Faivre, L, Xia, K, Earl, RK, Nowakowski, T, Bernier, RA, Eichler, EE

المصدر: Genome medicine. 13(1):63

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:146541529Test

المؤلفون: Mulhern, M., Stumpel, C., Stong, N., Brunner, H., Bier, L., Lippa, N., Riviello, J., Rouhl, R., Kempers, M., Pfundt, R., Stegmann, A., Kukolich, M., Telegrafi, A., Lehman, A., Lopez-Rangel, E., Houcinat, N., Barth, M., Den Hollander, N., Hoffer, M., Weckhuysen, S., Roovers, J., Djemie, T., Barca, D., Ceulemans, B., Craiu, D., Lemke, J., Korff, C., Mefford, H., Meyers, C., Siegler, Z., Hiatt, S., Cooper, G., Bebin, E., Snijders Blok, L., Veenstra-Knol, H., Baugh, E., Brilstra, E., Volker-Touw, C., Van Binsbergen, E., Revah-Politi, A., Pereira, E., McBrian, D., Pacault, M., Isidor, B., Le Caignec, C., Gilbert-Dussardier, B., Bilan, F., Heinzen, E., Goldstein, D., Stevens, S., Sands, T.

المصدر: Annals of Neurology

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-0002-72DA-8Test; http://hdl.handle.net/21.11116/0000-0002-9DB8Test-E

الإتاحة: https://doi.org/10.1002/ana.25350Test
http://hdl.handle.net/21.11116/0000-0002-72DA-8Test
http://hdl.handle.net/21.11116/0000-0002-9DB8Test-E

المؤلفون: Hall, J.G., Lopez-Rangel, E.

المصدر: Acta geneticae medicae et gemellologiae: twin research ; volume 45, issue 1-2, page 59-61 ; ISSN 0001-5660 2059-6324

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1017/s0001566000001100Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0001566000001100Test

المؤلفون: Qiao, Y, Tyson, C, Hrynchak, M, Lopez‐Rangel, E, Hildebrand, J, Martell, S, Fawcett, C, Kasmara, L, Calli, K, Harvard, C, Liu, X, Holden, JJA, Lewis, SME, Rajcan‐Separovic, E

المصدر: Clinical Genetics ; volume 83, issue 2, page 145-154 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2012.01860.xTest

المؤلفون: Lopez-Rangel, E., Van Allen, M. I.

المصدر: Journal of Investigative Medicine ; volume 55, issue 1, page S126 ; ISSN 1081-5589

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1097/00042871-200701010-00310Test

المؤلفون: Lopez‐Rangel, E

المصدر: Clinical Genetics ; volume 71, issue 1, page 44-45 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2006.00726_2.xTest

المؤلفون: Lopez‐Rangel, E

المصدر: Clinical Genetics ; volume 71, issue 1, page 43-44 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2006.00726_1.xTest

المؤلفون: Lopez‐Rangel, E, Lewis, MES

المصدر: Clinical Genetics ; volume 69, issue 1, page 23-25 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2006.00543c.xTest

المؤلفون: Lopez‐Rangel, E, Lewis, MES

المصدر: Clinical Genetics ; volume 69, issue 1, page 22-23 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2006.00543b.xTest