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1 Ergebnisse
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De novo variants in CACNA1E found in patients with intellec..:
Royer-Bertrand, Beryl
;
Jequier Gygax, Marine
;
Cisarova, Katarina
...
https://doi.org/10.1186/s13229-021-00473-3. , 2021
Link:
http://hdl.handle.net/11427/35297
RT Journal T1
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcapetownir:oai:localhost:11427_35297&Exemplar=1&LAN=DE A1 Royer-Bertrand, Beryl A1 Jequier Gygax, Marine A1 Cisarova, Katarina A1 Rosenfeld, Jill A A1 Bassetti, Jennifer A A1 Moldovan, Oana A1 O'Heir, Emily A1 Burrage, Lindsay C A1 Allen, Jake A1 Emrick, Lisa T A1 Eastman, Emma A1 Kumps, Camille A1 Abbas, Safdar A1 Van Winckel, Geraldine A1 Chabane, Nadia A1 Zackai, Elaine H A1 Lebon, Sebastien A1 Keena, Beth A1 Bhoj, Elizabeth J A1 Umair, Muhammad A1 Li, Dong A1 Donald, Kirsten A A1 Superti-Furga, Andrea PB Faculty of Health Sciences; Department of Paediatrics and Child Health YR 2021 K1 Autism spectrum disorder K1 CACNA1E K1 Developmental regression K1 Epilepsy K1 Exome sequencing K1 Global developmental delay K1 Intellectual disability K1 Neurodevelopmental disorders K1 Seizures K1 Topiramate JF https://doi.org/10.1186/s13229-021-00473-3 LK http://hdl.handle.net/11427/35297 DO http://hdl.handle.net/11427/35297 SF ELIB - SuUB Bremen
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