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1 Ergebnisse
1
KCNQ2 R144 variants cause neurodevelopmental disability wit..:
Francesco Miceli
;
Charissa Millevert
;
Maria Virginia Soldovieri
...
http://www.sciencedirect.com/science/article/pii/S2352396422003115. , 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=base-ftdoajarticles:oai:doaj.org_article:27289a7516ba4ba9b422fb966fcb4594&Exemplar=1&LAN=DE A1 Francesco Miceli A1 Charissa Millevert A1 Maria Virginia Soldovieri A1 Ilaria Mosca A1 Paolo Ambrosino A1 Lidia Carotenuto A1 Dewi Schrader A1 Hyun Kyung Lee A1 James Riviello A1 William Hong A1 Sarah Risen A1 Lisa Emrick A1 Hitha Amin A1 Dorothée Ville A1 Patrick Edery A1 Julitta de Bellescize A1 Vincent Michaud A1 Julien Van-Gils A1 Cyril Goizet A1 Marjolein H. Willemsen A1 Tjitske Kleefstra A1 Rikke S Møller A1 Allan Bayat A1 Orrin Devinsky A1 Tristan Sands A1 G. Christoph Korenke A1 Gerhard Kluger A1 Heather C. Mefford A1 Eva Brilstra A1 Gaetan Lesca A1 Mathieu Milh A1 Edward C. Cooper A1 Maurizio Taglialatela A1 Sarah Weckhuysen PB Elsevier YR 2022 K1 KCNQ2 K1 Gain-of-function K1 Amitriptyline K1 Autism K1 Developmental and epileptic encephalopathy K1 Medicine K1 R K1 Medicine (General) K1 R5-920 JF http://www.sciencedirect.com/science/article/pii/S2352396422003115 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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