المؤلفون: Erin Conboy, Catherine Nowak, Karen Stals, Elliot S. Stolerman, Brett Bostwick, Tiana M. Scott, Emma Wakeling, Cyril Mignot, Sian Ellard, Brittany C. Michel, Kayla Treat, Berrak Ugur, Jill A. Rosenfeld, Caroline Nava, Sally Ann Lynch, Victoria M. Pratt, Hugo J. Bellen, Aiko Otsubo, Michael F. Wangler, Jennifer Gass, John Herriges, Jennifer B. Phillips, Gaetan Lesca, Bo Yuan, Shinya Yamamoto, Scott Barish, Marjon van Slegtenhorst, Jessica Douglas, Dihong Zhou, Patrick Edery, David R. Murdock, Jeremy Wegner, Jose Camacho, Marie Faoucher, Boris Keren, Camerun Washington, Elena Perenthaler, Kendra Engleman, Francesco Vetrini, Anita Nikoncuk, Alfredo M. Valencia, Daryl A. Scott, Cigall Kadoch, Isabelle Thiffault, Tahsin Stefan Barakat, Chun-An Chen, Lance H. Rodan, Raymond J. Louie, Hongzheng Dai, Alice S. Brooks, Nazar Mashtalir, Monte Westerfield, Nora Shannon

المساهمون: Clinical Genetics

المصدر: Am J Hum Genet
American Journal of Human Genetics, 107(6), 1096-1112. Cell Press

مصطلحات موضوعية: Male, Adolescent, Chromosomal Proteins, Non-Histone, Developmental Disabilities, Mutation, Missense, Haploinsufficiency, Article, Chromatin remodeling, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Drosophila Proteins, Humans, Missense mutation, Child, Zebrafish, Genetics (clinical), Genes, Dominant, 030304 developmental biology, Neurons, 0303 health sciences, Microscopy, Confocal, biology, SWI/SNF complex, Coarse facial features, Tumor Suppressor Proteins, Genetic Variation, Infant, Zebrafish Proteins, Position-effect variegation, biology.organism_classification, Phenotype, Drosophila melanogaster, Child, Preschool, Female, Neuroglia, 030217 neurology & neurosurgery, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a2119984a12b57df62077f22734a60
https://doi.org/10.1016/j.ajhg.2020.11.003