CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
1 research outputs found
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder
Author
Baumann
Carvill
+38Â more
Cossette
Dibbens
Dror Kraus
Edenberg
Epi4K Consortium
Gonzalez-Nuneza
Green
Gürsoy
Hadassa Goldberg-Stern
Ishii
Ittiwut
Kang
Kodera
Kruer
Lachance-Touchette
Lien
Lily Bazak
Lina Basel-Salmon
Macdonald
Maljevic
Mastrangelo
Monika Weisz Hubshman
Naama Orenstein
Nesia Kropach
Nurit Magal
Oded Gilad
Oded Scheuerman
Papandreou
Prasad
Rachel Straussberg
Sale
Shay Tzur
Souzdalnitski
Strac
Vered Shkalim Zemer
Wang
Yael Kilim
Yahav Dory
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref