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Showing results 1 to 4 of 4

	Title	Author(s)	Issue Date	Views
	Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View Journal:Molecular Syndromology	De Maria, B de Jager, T Sarubbi, C Bartsch, O Bianchi, A Brancati, F Chung, BHY David, A Kariminejad, A Foresti, M Gallottini, M Isidor, B Marchegiani, S Martins, F Mazzanti, L Roche, N Singh, A Stevens, C Suga, K Zenker, M Hennekam, RC	2017	83
	Clinical and molecular characterization of patients with YWHAG-related epilepsy Journal:Epilepsia	Cetica, V Pisano, T Lesca, G Marafi, D Licchetta, L Riccardi, F Mei, DVD Chung, HYB Bayat, A Balasubramanian, M Lowenstein, DH Endziniene, M Alotaibi, M Villeneuve, N Jacobs, J Isidor, B Solazzi, R den Hollander, NS Marjanovic, D Rougeot-Jung, C Jung, JL Lesieur-Sebellin, M Accogli, A Salpietro, V Saadi, NW Panagiotakaki, E Foiadelli, T Redon, S Tsai, MH Bisulli, F Hammer, TB Lupski, JR Parrini, E Guerrini, R The YWHAG Study Group,	16-Mar-2024
	Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion Journal:Clinical Genetics	Chiu, TA Pei, LCS MAK, CCY Leung, KC YU, HC Lee, SL Vreeburg, M Pfundt, R van der Burgt, I Kleefstra, T Frederic, TMT Nambot, S Faivre, L Bruel, AL Rossi, M Isidor, B Kury, S Cogne, B Besnard, T Willems, M Reijnders, MRF Chung, BHY	2018	132
	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	43

Showing results 1 to 4 of 4