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1 Ergebnisse
1
Loss-of-function variants in HOPS complex genes VPS16 and V..:
Steel, Dora
;
Zech, Michael
;
Zhao, Chen
...
https://research.rug.nl/en/publications/1a1ad90a-f2ce-4725-a997-f0ece20786a9. , 2020
Link:
https://hdl.handle.net/11370/1a1ad90a-f2ce-4725-a997-f..
RT Journal T1
Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_1a1ad90a-f2ce-4725-a997-f0ece20786a9&Exemplar=1&LAN=DE A1 Steel, Dora A1 Zech, Michael A1 Zhao, Chen A1 Barwick, Katy Es A1 Burke, Derek A1 Demailly, Diane A1 Kumar, Kishore R A1 Zorzi, Giovanna A1 Nardocci, Nardo A1 Kaiyrzhanov, Rauan A1 Wagner, Matias A1 Iuso, Arcangela A1 Berutti, Riccardo A1 Škorvánek, Matej A1 Necpál, Ján A1 Davis, Ryan A1 Wiethoff, Sarah A1 Mankad, Kshitij A1 Sudhakar, Sniya A1 Ferrini, Arianna A1 Sharma, Suvasini A1 Kamsteeg, Erik-Jan A1 Tijssen, Marina A A1 Verschuuren, Corien A1 van Egmond, Martje E A1 Flowers, Joanna M A1 McEntagart, Meriel A1 Tucci, Arianna A1 Coubes, Philippe A1 Bustos, Bernabe I A1 Gonzalez-Latapi, Paulina A1 Tisch, Stephen A1 Darveniza, Paul A1 Gorman, Kathleen M A1 Peall, Kathryn J A1 Bötzel, Kai A1 Koch, Jan C A1 Kmieć, Tomasz A1 Plecko, Barbara A1 Boesch, Sylvia A1 Haslinger, Bernhard A1 Jech, Robert A1 Garavaglia, Barbara A1 Wood, Nick A1 Houlden, Henry A1 Gissen, Paul A1 Lubbe, Steven J A1 Sue, Carolyn M A1 Cif, Laura A1 Mencacci, Niccolò E YR 2020 JF https://research.rug.nl/en/publications/1a1ad90a-f2ce-4725-a997-f0ece20786a9 LK http://dx.doi.org/https://hdl.handle.net/11370/1a1ad90a-f2ce-4725-a997-f0ece20786a9 DO https://hdl.handle.net/11370/1a1ad90a-f2ce-4725-a997-f0ece20786a9 SF ELIB - SuUB Bremen
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