Results 111 to 120 of about 331,816 (348)

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler   +5 more
wiley   +1 more source

The syntax of serial verbs in Jordanian Arabic: a cartographic analysis

open access: yesCogent Arts & Humanities
Serial verb constructions have been the focus of much linguistic research, especially in studies on languages of East Africa, Southeast Asia, and the Pacific. This paper contributes to the growing body of research on the topic by providing empirical data
Eman Al Khalaf, Nisreen Al-Khawaldeh
doaj   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe   +22 more
wiley   +1 more source

The Radical Account of Bare Plural Generics [PDF]

open access: yes, 2020
Bare plural generic sentences pervade ordinary talk. And yet it is extremely controversial what semantics to assign to such sentences. In this paper, I achieve two tasks.
Nguyen, Anthony
core  

Sentence processing is modulated by the current linguistic environment and a priori information: An fMRI study

open access: yesBrain and Behavior, 2019
Introduction Words are not processed in isolation but in rich contexts that are used to modulate and facilitate language comprehension. Here, we investigate distinct neural networks underlying two types of contexts, the current linguistic environment and
Kirsten Weber   +3 more
doaj   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde   +12 more
wiley   +1 more source

On the scope of the referential hierarchy in the typology of grammatical relations [PDF]

open access: yes, 2010
In the late seventies, Bernard Comrie was one of the first linguists to explore the effects of the referential hierarchy (RH) on the distribution of grammatical relations (GRs).
Bickel, Balthasar
core  

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier   +2 more
wiley   +1 more source

Verb movement in Biblical Aramaic: Word orders with ditransitive verbs

open access: yesActa Academica, 2001
From text: The word order of any sentence with a ditransitive verb will of necessity differ materially from word orders where the V is transitive or intransitive, due to the fact that the ditransitive verb has a twofold object.
doaj   +3 more sources

A Cartographic Approach to Verb Movement and Two Types of FinP V2 in German

open access: yesLanguages
In this paper, two syntactic configurations are considered that involve V-to-C movement in present-day German: Verb Second in run-of-the-mill declarative clauses and Verb Second in non-assertive embedded contexts.
Nicholas Catasso
doaj   +1 more source

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