De novo variants disturbing the transactivation capacity of POU3F3 cause a 
characteristic neurodevelopmental disorder

Snijders Blok, Lot; 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, Pelagia; Brunner, H. G.; Fisher, Simon E.

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Talk

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

MPS-Authors

/persons/resource/persons221838

Snijders Blok, Lot
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
International Max Planck Research School for Language Sciences, MPI for Psycholinguistics, Max Planck Society;

/persons/resource/persons32809

Derizioti, Pelagia
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

/persons/resource/persons4427

Fisher, Simon E.
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

External Resource

No external resources are shared

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

Snijders Blok, L., Kleefstra, T., Venselaar, H., Maas, S., Kroes, H. Y., Lachmeijer, A. M. A., et al. (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.

Cite as: https://hdl.handle.net/21.11116/0000-0004-AC4E-4

Abstract

There is no abstract available