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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 4 of 4 1 Language impairment with a microduplication in 1q42.3q43 Fernández Urquiza, Maite; Jiménez Romero, Salud; Benítez Burraco, Antonio In: Scopus ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85089899468&doi=10.1080%2f02699206.2020.1812119&partnerID=40&md5=95027d89c2e1d30b00744a82a1526a4b (2021) BASE Show details 2 Language impairment with a microduplication in 1q42.3q43 ... Benítez-Burraco, Antonio; Fernández-Urquiza, Maite; Jiménez-Romero, Salud. - : Taylor & Francis, 2020 BASE Show details 3 Language impairment with a microduplication in 1q42.3q43 ... Benítez-Burraco, Antonio; Fernández-Urquiza, Maite; Jiménez-Romero, Salud. - : Taylor & Francis, 2020 BASE Show details 4 Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator Jiménez-Romero, Salud; Carrasco-Salas, Pilar; Benítez-Burraco, Antonio. - : S. Karger AG, 2018 Abstract: Mutations in the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported in affected individuals, mostly in patients with copy number variations. We report on a child with a nonsynonymous p.Cys63Arg change in MED13L (chr12:116675396A>G, GRCh37) who exhibits profound language impairment in the expressive domain, cognitive delay, behavioral disturbances, and an autism-like phenotype. Because of the brain areas in which MED13L is expressed and because of the functional links between MED13L and the products of selected candidate genes for cognitive disorders involving language deficits, the proband's linguistic phenotype may result from changes in a functional network important for language development and evolution. Keyword: Original Article URL: http://www.ncbi.nlm.nih.gov/pubmed/29593475 https://doi.org/10.1159/000485638 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836249/ BASE Hide details

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