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	Title	Author(s)	Issue Date
	GRIN2A-related disorders: genotype and functional consequence predict phenotype Journal:Brain	Strehlow, V Heyne, HO Vlaskamp, DRM Marwick, KFM Rudolf, G de Bellescize, J Biskup, S Brilstra, EH Brouwer, OF Callenbach, PMC Hentschel, J Hirsch, E Kind, PC Mignot, C Platzer, K Rump, P Skehel, PA Wyllie, DJA Hardingham, GE van Ravenswaaj-Aris, CMA Lesca, G Lemke, JR Arzimanoglou, A Augustijn, PB Van Bogaert, P Bourry, H Burfeind, P Chu, WY Chung, BHY Doummar, D Edery, P Fattai-Valevski, A Fradin, M Gerard, M de Geus, C Gunning, S Hasaerts, D Helbig, I Heibig, KL Jamra, R Lyver, MJ Wassink-Ruifer, JSK Koolen, DA Lederer, D Lunsing, RJ Mathot, M Maurey, H Manascu, S Mishel, A Mirzaa, G Mittler, D Muhie, H Malter, RS Nava, C O'Brien, M van Piruderen-Nagler, E van Riesen, A Rougeot, C Sariaville, D Schieving, JH Syrte, S Veenstra-Knol, HE Verbeek, N Ville, D Vos, YJ Vrielynck, P Wagner, S Weckhuysen, S Willemsen, MH	2019
	Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development Journal:Neuron	Lennox, AL Hoye, ML Jiang, R Johnson-Kerner, BL Suit, LA Venkataramanan, S Sheehan, CJ Alsina, FC Fregeau, B Aldinger, KA Moey, C Lobach, I Afenjar, A Babovic-Vuksanovic, D Bezieau, S Blackburn, PR Bunt, J Burglen, L Campeau, PM Charles, P Chung, BHY Cogne, B Curry, C D'Agostino, MD Di Donato, N Faivre, L Heron, D Innes, AM Isidor, B Keren, B Kimball, A Klee, EW Kuentz, P Kury, S Martin-Coignard, D Mirzaa, G Mignot, C Myake, N Matsumoto, N Fujita, A Nava, C Nizon, M Rodriguez, D Blok, LS Thauvin-Robinet, C Thevenon, J Vincent, M Ziegler, A Dobyns, W Richards, LJ Barkovich, AJ Floor, SN Silver, DL Sherr, EH	2020
	SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Journal:Human Mutation	Ng, BG Sosicka, P Agada, S Almannai, M Bacino, CA Barone, R Botto, L Burton, JE Carlston, C Chung, BHY Cohen, J Coman, D Dobyns, W Elias, AF Epstein, L Garozzo, D Grunewald, S Hammer, TB Haven, J Heron, D Hoganson, GE Lakhani, S Lee, J Lewis, K Longo, N Lourenco, CM Mak, CCY Mendelsohn, B Mignnot, C Mirzaa, G Mitchell, W Olezak, M Parikian, A Patterson, MC Pierson, T Quinonez, SC Regan, B Rosa, ME Scaglia, F Scheffer, I Segal, D Singhal, NS Striano, P Sturiale, L Symonds, J Willis, M Wolfe, LA Yano, S Powis, Z Suchy, S Mokry, JA Edmondson, AC Freeze, HH	2019

Showing results 1 to 3 of 3