Results 131 to 140 of about 36,396 (305)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Structural Priming in Sentence Comprehension [PDF]

, 2003
Structural priming in sentence production has long been observed, but the nature of the information that mediates priming and the conditions under which it occurs remain open questions. This study presents a data driven account of structural priming that
Harrington, Michael, Harrington, M., Dennis, Simon, Dennis, Simon John, Simon Dennis, Michael Harrington, Dennis, S.   +6 more
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

An investigation of theories of focusing [PDF]

, 2001
This thesis investigates the proposals of a number of psychological and computational accounts of focusing and pronoun interpretation in view of obtaining experimental evidence for the questions raised by the accounts.
Pearson, Jamie
core  

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Multimodal measures of sentence comprehension in agrammatism. [PDF]

Cortex, 2023
Thothathiri M, Kirkwood J, Patra A, Krason A, Middleton EL.   +4 more
europepmc   +1 more source

The Relation between Thematic Role Computing and Semantic Relatedness Processing during On-Line Sentence Comprehension

, 2014
Sentence comprehension involves timely computing different types of relations between its verbs and noun arguments, such as morphosyntactic, semantic, and thematic relations.
Li, Xiaoqing, Lu, Yong, Zhao, Haiyan
core  

Functional integration across brain regions improves speech perception under adverse listening conditions

, 2007
Speech perception is supported by both acoustic signal decomposition and semantic context. This study, using event-related functional magnetic resonance imaging, investigated the neural basis of this interaction with two speech manipulations, one ...
Wise, R., Obleser, J, Dresner, M., Scott, SK, Dresner, MA, Obleser, J., Wise, RJS, Scott, S.   +7 more
core   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

The effect of context on noisy-channel sentence comprehension. [PDF]

Cognition, 2023
Chen S, Nathaniel S, Ryskin R, Gibson E.
europepmc   +1 more source