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1 Ergebnisse
1
ANK2 loss-of-function variants are associated with epilepsy..:
Teunissen, Maria W A
;
Lewerissa, Elly
;
van Hugte, Eline J H
...
Human Molecular Genetics. 32 (2023) 14 - p. 2373-2385 , 2023
Link:
https://doi.org/10.1093/hmg/ddad081
RT Journal T1
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddad081&Exemplar=1&LAN=DE A1 Teunissen, Maria W A A1 Lewerissa, Elly A1 van Hugte, Eline J H A1 Wang, Shan A1 Ockeloen, Charlotte W A1 Koolen, David A A1 Pfundt, Rolph A1 Marcelis, Carlo L M A1 Brilstra, Eva A1 Howe, Jennifer L A1 Scherer, Stephen W A1 Le Guillou, Xavier A1 Bilan, Frédéric A1 Primiano, Michelle A1 Roohi, Jasmin A1 Piton, Amelie A1 de Saint Martin, Anne A1 Baer, Sarah A1 Seiffert, Simone A1 Platzer, Konrad A1 Jamra, Rami Abou A1 Syrbe, Steffen A1 Doering, Jan H A1 Lakhani, Shenela A1 Nangia, Srishti A1 Gilissen, Christian A1 Vermeulen, R Jeroen A1 Rouhl, Rob P W A1 Brunner, Han G A1 Willemsen, Marjolein H PB Oxford University Press (OUP) YR 2023 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 32 IS 14 SP 2373 OP 2385 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddad081 DO https://doi.org/10.1093/hmg/ddad081 SF ELIB - SuUB Bremen
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