Results 81 to 90 of about 763,946 (306)
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
"Aspecto" e "aspectualidade": coordenadas descritivas [PDF]
, 2008 Separata da "Revista portuguesa de humanidades. Estudos linguísticos", vol. 12, n.º 1 (2008)In this article I will first reflect on the nature and the constitution of both the category of aspect and the semantic notion of aspectuality in order to then ...
Barroso, Henrique
core
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 +10 more
wiley +1 more source
Description of verb aspect in grammars of the Kajkavian literary language
Rasprave Instituta za Hrvatski Jezik i Jezikoslovlje, 2008 In grammars of the Kajkavian literary language, verb aspect is described both implicitly and explicitly. I. Kristijanović’s grammar, in which the author described verb aspect as one of the basic characteristics of a verb, is an example of the explicit ...
Željka Brlobaš
doaj
¿Por qué las cópulas son auxiliares?
Borealis: An International Journal of Hispanic Linguistics, 2019 . Copulas work as auxiliary verbs in Spanish and in other languages. In this article, we will argue in favor of this property being due to the absence of lexical content of the copula verb be1 (Sp.
Joshua Gómez Rubio
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
British Educational Research Journal, EarlyView., 2023 Abstract Children's relationship with time in preschools is an under‐researched area. Young children rarely know how to measure time using a clock, but their experiences of time may contribute to understanding children's well‐being and debates about quality in preschools.
Kristín Dýrfjörð +3 more
wiley +1 more source
O tempo gramatical e a sua influência no valor aspectual da construção perifrástica
Études romanes de Brno, 2009 The above article is an attempt to analyze the influence of tens in which the auxiliary verb appears on the aspectual value of the periphrastic construction.
Joanna Drzazgowska
doaj
When evaluative morphology, pluractionality and aspect get tangled up: a case study of French suffixed verbs [PDF]
, 2014 International audiencePluractionality is "the phenomen[on] where a certain derivational morphological marking on a verb [...] indicates that the event denoted by this verb is, in some sense, pluralized: repeated in time, distributed in various locations,
Amiot, Dany, Stosic, Dejan
core +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source