دورية أكاديمية
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
العنوان: | X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome |
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المؤلفون: | Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T. |
المصدر: | Human Genetics. May 2014 133(5):625-638 |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 03406717 14321203 |
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DOI: | 10.1007/s00439-013-1403-3 |