دورية أكاديمية
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
| العنوان: | De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females |
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| المؤلفون: | Polla, D. L.Aff1, Aff2, Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A. T. Vulto-van, Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S.Aff9, Aff10, Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., Wennekes, R., Stegmann, A. P. A., Reardon, W., Leenders, E. K. S. M., de Vries, B. B. A., Li, D., Zackai, E., Ragge, N., Lynch, S. A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A. P. M.Aff1 |
| المصدر: | Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(4):645-652 |
| قاعدة البيانات: | Springer Nature Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 10983600 15300366 |
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| DOI: | 10.1038/s41436-020-01040-6 |