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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. [electronic resource] by
- Tran Mau-Them, F
- Guibaud, L
- Duplomb, L
- Keren, B
- Lindstrom, K
- Marey, I
- Mochel, F
- van den Boogaard, M J
- Oegema, R
- Nava, C
- Masurel, A
- Jouan, T
- Jansen, F E
- Au, M
- Chen, Agnes H
- Cho, M
- Duffourd, Y
- Lozier, E
- Konovalov, F
- Sharkov, A
- Korostelev, S
- Urteaga, B
- Dickson, P
- Vera, M
- Martínez-Agosto, Julián A
- Begemann, A
- Zweier, M
- Schmitt-Mechelke, T
- Rauch, A
- Philippe, C
- van Gassen, K
- Nelson, S
- Graham, J M
- Friedman, J
- Faivre, L
- Lin, H J
- Thauvin-Robinet, C
- Vitobello, A
Producer: 20190618
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
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