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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2018, Volume 379, Issue 22, pp. 2131 - 2139
Journal Article
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 503 - 515
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling... 
17q24.2 deletion | PSMD12 | zebrafish | head size | intellectual disability | INTELLECTUAL DISABILITY | PROTEIN | GENE | IN-VIVO | GENETICS & HEREDITY | PHD FINGER | MUTATIONS | TRANSCRIPTION FACTOR | ARRAY CGH | COPY-NUMBER VARIANT | COMPLEX NURF | Abnormalities, Multiple - pathology | Neurons - pathology | Cell Proliferation | Microcephaly - genetics | Antigens, Nuclear - metabolism | Humans | Child, Preschool | Male | Gene Expression Regulation, Developmental | Larva - growth & development | Microcephaly - pathology | Craniofacial Abnormalities - pathology | Female | Larva - genetics | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Haploinsufficiency - genetics | Nerve Tissue Proteins - antagonists & inhibitors | Language Development Disorders - genetics | Cells, Cultured | Language Development Disorders - pathology | Chromatin Assembly and Disassembly | Transcription Factors - antagonists & inhibitors | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Zebrafish - growth & development | Gene Editing | Zebrafish - genetics | Haploinsufficiency - physiology | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Phenotype | Animals | Antigens, Nuclear - genetics | Adolescent | CRISPR-Cas Systems | Cohort Studies | Cell proliferation | Usage | Transcription factors | Genetic aspects | Research | Nucleotide sequencing | Mental retardation | DNA sequencing
Journal Article
Osteoporosis International, ISSN 0937-941X, 8/2013, Volume 24, Issue 8, pp. 2253 - 2259
Journal Article
Human Genetics, ISSN 0340-6717, 2016, Volume 135, Issue 5, pp. 569 - 586
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2009, Volume 46, Issue 12, pp. 825 - 833
Journal Article
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 09/2015, Volume 46, Issue S1, pp. 167 - 167
Journal Article
Neurology, ISSN 0028-3878, 03/2005, Volume 64, Issue 6, pp. 1088 - 1090
Journal Article