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1 Ergebnisse
1
Missense variants in RPH3A cause defects in excitatory syna..:
Pavinato, Lisa
;
Stanic, Jennifer
;
Barzasi, Marta
...
https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdf. , 2023
Link:
https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisod..
RT Journal T1
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10173344&Exemplar=1&LAN=DE A1 Pavinato, Lisa A1 Stanic, Jennifer A1 Barzasi, Marta A1 Gurgone, Antonia A1 Chiantia, Giuseppe A1 Cipriani, Valentina A1 Eberini, Ivano A1 Palazzolo, Luca A1 Di Luca, Monica A1 Costa, Alex A1 Marcantoni, Andrea A1 Biamino, Elisa A1 Spada, Marco A1 Hiatt, Susan M A1 Kelley, Whitley V A1 Vestito, Letizia A1 Sisodiya, Sanjay M A1 Genomics England Research Consortium A1 Efthymiou, Stephanie A1 Chand, Prem A1 Kaiyrzhanov, Rauan A1 Bruselles, Alessandro A1 Cardaropoli, Simona A1 Tartaglia, Marco A1 De Rubeis, Silvia A1 Buxbaum, Joseph D A1 Smedley, Damian A1 Ferrero, Giovanni Battista A1 Giustetto, Maurizio A1 Gardoni, Fabrizio A1 Brusco, Alfredo PB Elsevier BV YR 2023 K1 RPH3A K1 epilepsy K1 excitatory synapse K1 neurodevelopmental disorder K1 rabphilin JF https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdf DO https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdf SF ELIB - SuUB Bremen
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