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	Title	Author(s)	Issue Date
	MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal:Brain	Mak, CCY Doherty, D Lin, AE Vegas, N Cho, MT Viot, G Dimartino, C Weisfeld-Adams, JD Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, YA Ehmke, N Horn, D Troyer, C Kant, SG Lee, Y Ishak, GE Leung, G Barone Pritchard, A Yang, S Bend, EG Filippini, F Roadhouse, C Lebrun, N Mehaffey, MG Martin, P-M Apple, B Millan, F Puk, O Hoffer, MJV Henderson, LB McGowan, R Wentzensen, IM Pei, S Zahir, FR YU, M Gibson, WT Senab, A Steeves, M Murrell, JR Luettgen, S Francisco, E Strom, TM Amlie-Wolf, L Kaindl, AM Wilson, WG Halbach, S Basel-Salmon, L Lev-El, N Denecke, J Vissers, LELM Radtke, K Chelly, J Zackai, E Friedman, JM Bamshad, MJ Nickerson, DA Reid, RR Devriendt, K Chae, JH Stolerman, E McDougall, C Powis, Z Bienvenu, T Tan, TY Orenstein, N Dobyns, WB Shieh, JT Choi, M Waggoner, D Gripp, KW Parker, MJ Stoler, J Lyonnet, S Cormier-Daire, V Viskochil, D Hoffman, TL Amiel, J Chung, BHY Gordon, CT University of Washington Center for Mendelian Genomics	2020
	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
	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

Showing results 1 to 3 of 3