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	Title	Author(s)	Issue Date	Views
	Mutations in ATP6V1E1 or ATP6V1A cause AR cutis laxia Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	van Damme, T Gardenchik, T Mohamed, M Gucerrero-Castillo, S Freisinger, P Guillemyn, B Kariminejad, A Dalloyaux, D van Kraaij, S Lefeber, DJ Syx, D Steyaert, W De Rycke, R Hotschen, A Kamstccg, EJ Wong, SY van Scherpenzeei, M Jamali, P Brandt, U Nijtmans, L Korenke, C Chung, BHY Mak, CCY Hausser, I Kornak, U Fischer-Zirnsak, B Strom, TM Meitinger, T Alanay, Y Utine, GE Leung, PKC Ghadcri-Soli, S Coucke, P Symoens, S De Paepe, A Thiel, C Haack, TB Malfair, F Morava, E Callewaert, B	2016	45
	Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa Journal:American Journal of Human Genetics	van Damme, T Gardeitchik, T Mohamed, M Guerrero-Castillo, S Freisinger, P Guillemyn, B Kariminejad, A Dalloyaux, D van Kraaij, S Lefeber, DJ Syx, D Steyaert, W DeRycke, R Hoischen, A Kamsteeg, EJ Wong, SY van Scherpenzeel, M Jamali, P Brandt, P Nijtmans, L Korenke, GC Chung, BHY MAK, CCY Hausser, I Kornak, U Fischer-Zirnsak, B Strom, TM Meitinger, T Alanay, Y Utine, GE Leung, KCP Ghaderi-Sohi, S Coucke, P Symoens, S De Paepe, A Thiel, C Haack, TB Malfait, F Morava, E Callewaert, B Wevers, RA	2017	83
	NOA1 is an essential GTPase required for mitochondrial protein synthesis Journal:Molecular Biology of the Cell	Kolanczyk, M Pech, M Zemojtel, T Yamamoto, H Mikula, I Calvaruso, MA Van Den Brand, M Richter, R Fischer, B Ritz, A Kossler, N Thurisch, B Spoerle, R Smeitink, J Kornak, U Chan, D Vingron, M Martasek, P Lightowlers, RN Nijtmans, L Schuelke, M Nierhaus, KH Mundlos, S	2011	196

Showing results 1 to 3 of 3