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Journal Article
Hardies, Katia, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Asselbergh, Bob
ORCID: 0000-0003-2784-2470, Geuens, Thomas
ORCID: 0000-0002-1764-6233, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick
ORCID: 0000-0001-8698-3770, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P. J., Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van't Slot, Ruben, Nuernberg, Peter, Balling, Rudi
ORCID: 0000-0003-2902-5650, Timmerman, Vincent
ORCID: 0000-0002-2162-0933, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Suls, Arvid
ORCID: 0000-0003-0328-198X, Koeleman, Bobby P. C. and De Jonghe, Peter
(2015).
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Brain, 138.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156