Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author exact F6AE9EC2-F0ED-11E1-A9DE-61C894A0A6B4 cql: author exact 1D159C6E-F0EE-11E1-A9DE-61C894A0A6B4 Add to list Journal Article A1 Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects Annekatrien Boel (UGent) , Joyce Burger, Marine Vanhomwegen (UGent) , Aude Beyens (UGent) , Marjolijn Renard (UGent) , Sander Barnhoorn, Christophe Casteleyn (UGent) , Dieter Reinhardt, Benedicte Descamps (UGent) , Christian Vanhove (UGent) , et al. (2020) HUMAN MOLECULAR GENETICS. 29(9). p.1476-1488 Add to list Journal Article A1 Arterial tortuosity syndrome : 40 new families and literature review Aude Beyens (UGent) , Juliette Albuisson, Annekatrien Boel (UGent) , Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, et al. (2018) GENETICS IN MEDICINE. 20(10). p.1236-1245 Add to list Journal Article A1 open access Expressed repetitive elements are broadly applicable reference targets for normalization of reverse transcription-qPCR data in mice Marjolijn Renard (UGent) , Suzanne Vanhauwaert (UGent) , Marine Vanhomwegen (UGent) , Ali Rihani, Niels Vandamme (UGent) , Steven Goossens (UGent) , Geert Berx (UGent) , Pieter Van Vlierberghe (UGent) , Jody J Haigh, Bieke Decaesteker (UGent) , et al. (2018) SCIENTIFIC REPORTS. 8. Add to list Conference Paper C3 Arterial tortuosity syndrome : 40 new families and literature review Aude Beyens (UGent) , Juliette Albuisson, Annekatrien Boel (UGent) , Mazen Al-Essa, Damien Bonnet, O Bostan, Odile Boute, T Busa, N Canham, Ergun Cil, et al. (2017) European Society of Human Genetics, 50th Annual meeting, Abstracts.