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Number of items: 2.

Journal Article

De Ridder, Willem, Azmi, Abdelkrim, Clemen, Christoph S., Eichinger, Ludwig, Hofmann, Andreas, Schroeder, Rolf, Johnson, Katherine ORCID: 0000-0002-3593-7966, Topf, Ana, Straub, Volker ORCID: 0000-0001-9046-3540, De Jonghe, Peter, Maudsley, Stuart, De Bleecker, Jan L. and Baets, Jonathan (2020). Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected. Neurology, 94 (8). S. E785 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

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

This list was generated on Mon Apr 15 18:19:41 2024 CEST.