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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
	Recurrent mutations in the basic domain of TWIST2 cause Ablepharon Macrostomia syndrome and Barber-Say syndrome Journal:American Journal of Human Genetics	Marchegiani, S Davis, T Tessadori, F van Haaften, G Brancati, F Hoischen, H Huang, H Valkanas, E Pusey, B Schanze, D Venselaaar, H Vulto-van Silfhourt, AT Wolfe, LA Tifft, CJ Zerfas, PM Zambruno, G Kariminejad, A Kermani, FS Lee, J Tsokos, MG Lee, CCR Ferraz, V da Silva, EM Stevens, CA Roche, N Bartsch, O Farndon, P Bermejo-Sanchez, E Brooks, BP Maduro, V Dallapiccola, B Ramos, FJ Chung, BHY Caignec, CL Martins, F Jacyk, WK Mazzanti, L Brunner, HG Bakkers, J Lin, S Malicdan, MCV Boerkoel, CF Gahl, WA de Vries, BBA van Haelst, MM Zenker, M Markello, T	2015	55

Showing results 2 to 4 of 4 < previous