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Biallelic Variants in UBA5 Reveal that Disruption of the UF..:
Colin, Estelle
;
Daniel, Jens
;
Ziegler, Alban
...
http://hdl.handle.net/10668/10376. , 2016
Link:
http://hdl.handle.net/10668/10376
RT Journal T1
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftsspa:oai:www.repositoriosalud.es:10668_10376&Exemplar=1&LAN=DE A1 Colin, Estelle A1 Daniel, Jens A1 Ziegler, Alban A1 Wakim, Jamal A1 Scrivo, Aurora A1 Haack, Tobias B A1 Khiati, Salim A1 Denommé, Anne-Sophie A1 Amati-Bonneau, Patrizia A1 Charif, Majida A1 Procaccio, Vincent A1 Reynier, Pascal A1 Aleck, Kyrieckos A A1 Botto, Lorenzo D A1 Herper, Claudia Lena A1 Kaiser, Charlotte Sophia A1 Nabbout, Rima A1 N'Guyen, Sylvie A1 Mora-Lorca, José Antonio A1 Assmann, Birgit A1 Christ, Stine A1 Meitinger, Thomas A1 Strom, Tim M A1 Prokisch, Holger A1 FREX Consortium A1 Miranda-Vizuete, Antonio A1 Hoffmann, Georg F A1 Lenaers, Guy A1 Bomont, Pascale A1 Liebau, Eva A1 Bonneau, Dominique YR 2016 K1 Age of Onset K1 Alleles K1 Animals K1 Brain Diseases K1 Brain Mapping K1 Caenorhabditis elegans K1 Caenorhabditis elegans Proteins K1 Child K1 Preschool K1 Cholinergic Neurons K1 Endoplasmic Reticulum K1 Epilepsy K1 Exome K1 Female K1 Fibroblasts K1 Genes K1 Recessive K1 Humans K1 Intellectual Disability K1 Magnetic Resonance Imaging K1 Male K1 Microcephaly K1 Movement Disorders K1 Mutation K1 Proteins K1 Synaptic Transmission K1 Ubiquitin K1 Ubiquitin-Activating Enzymes K1 Ubiquitins K1 Zebrafish K1 Zebrafish Proteins JF http://hdl.handle.net/10668/10376 LK http://hdl.handle.net/10668/10376 DO http://hdl.handle.net/10668/10376 SF ELIB - SuUB Bremen
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