Snijders Blok, L., Kleefstra, T., Venselaar, H., Maas, S., Kroes, H. Y., Lachmeijer, A. M. A., Van Gassen, K. L. I., Firth,
H. V., Tomkins, S., Bodek, S., DDD study, Õunap, K., Wojcik, M., Cunniff, C., Bergstrom, K., Powis, Z., Tang, S., Shinde,
D. N., Au, C., Iglesias, A. D., Izumi, K., Leonard, J., Tayyoun, A. A., Baker, S. W., Tartaglia, M., Niceta, M., Dentici,
M. L., Okamoto, N., Miyake, N., Matsumoto, N., Vitobello, A., Faivre, L., Philippe, C., Gilissen, C., Van de Wiel, L., Pfundt,
R., Derizioti, P., Brunner, H. G., & Fisher, S. E. (2019). De
novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder.
Talk presented at the European Human Genetics Conference 2019. Gothenburg, Sweden. 2019-06-15 - 2019-06-18.
