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1 Ergebnisse
1
KCNQ2 R144 variants cause neurodevelopmental disability wit..:
Miceli, Francesco
;
Millevert, Charissa
;
Soldovieri, Maria Virginia
...
eBioMedicine. 81 (2022) - p. 104130 , 2022
Link:
https://doi.org/10.1016/j.ebiom.2022.104130
RT Journal T1
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ebiom.2022.104130&Exemplar=1&LAN=DE A1 Miceli, Francesco A1 Millevert, Charissa A1 Soldovieri, Maria Virginia A1 Mosca, Ilaria A1 Ambrosino, Paolo A1 Carotenuto, Lidia A1 Schrader, Dewi A1 Lee, Hyun Kyung A1 Riviello, James A1 Hong, William A1 Risen, Sarah A1 Emrick, Lisa A1 Amin, Hitha A1 Ville, Dorothée A1 Edery, Patrick A1 de Bellescize, Julitta A1 Michaud, Vincent A1 Van-Gils, Julien A1 Goizet, Cyril A1 Willemsen, Marjolein H. A1 Kleefstra, Tjitske A1 Møller, Rikke S A1 Bayat, Allan A1 Devinsky, Orrin A1 Sands, Tristan A1 Korenke, G. Christoph A1 Kluger, Gerhard A1 Mefford, Heather C. A1 Brilstra, Eva A1 Lesca, Gaetan PB Elsevier BV YR 2022 SN 2352-3964 JF eBioMedicine VO 81 SP 104130 LK http://dx.doi.org/https://doi.org/10.1016/j.ebiom.2022.104130 DO https://doi.org/10.1016/j.ebiom.2022.104130 SF ELIB - SuUB Bremen
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