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.

Local TagsRelease HistoryDetailsSummary

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

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.

Item is Released

show all hide all

Basic

show hide

Item Permalink: https://hdl.handle.net/21.11116/0000-0004-AC4E-4 Version Permalink: https://hdl.handle.net/21.11116/0000-0004-AC4F-3

Genre: Talk

Files

show Files

Locators

show

Creators

show

hide

Creators:
Snijders Blok, Lot^{1, 2}, Author
Kleefstra, T., Author
Venselaar, H., Author
Maas, S., Author
Kroes, H. Y., Author
Lachmeijer, A. M. A., Author
Van Gassen, K. L. I., Author
Firth, H. V., Author
Tomkins, S., Author
Bodek, S., Author
DDD study, Author
Õunap, K., Author
Wojcik, M., Author
Cunniff, C., Author
Bergstrom, K., Author
Powis, Z., Author
Tang, S., Author
Shinde, D. N., Author
Au, C., Author
Iglesias, A. D., Author
Izumi, K., AuthorLeonard, J., AuthorTayyoun, A. A., AuthorBaker, S. W., AuthorTartaglia, M., AuthorNiceta, M., AuthorDentici, M. L., AuthorOkamoto, N., AuthorMiyake, N., AuthorMatsumoto, N., AuthorVitobello, A., AuthorFaivre, L., AuthorPhilippe, C., AuthorGilissen, C., AuthorVan de Wiel, L., AuthorPfundt, R., AuthorDerizioti, Pelagia¹, Author         Brunner, H. G., AuthorFisher, Simon E.¹, Author          more..

Affiliations:
1Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, ou_792549
2International Max Planck Research School for Language Sciences, MPI for Psycholinguistics, Max Planck Society, Nijmegen, NL, ou_1119545

Content

show

Details

show

hide

Language(s):

Dates: Created: 2019

Publication Status: Not specified

Pages: -

Publishing info: -

Table of Contents: -

Rev. Type: -

Identifiers: -

Degree: -

Event

show

hide

Title: the European Human Genetics Conference 2019

Place of Event: Gothenburg, Sweden

Start-/End Date: 2019-06-15 - 2019-06-18

Legal Case

show

Project information

show

Source

show