Results 81 to 90 of about 759,858 (308)

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

American 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, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

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, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

¿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

Case and event structure [PDF]

, 2013
I argue in this paper for a novel analysis of case in Icelandic, with implications for case theory in general. I argue that structural case is the manifestation on the noun phrase of features which are semantically interpretable only on verbal ...
Svenonius, Peter
core  

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

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, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 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  

The modality constituent : a neglected area in the study of first language acquisition [PDF]

, 1978
Studies of syntax in first language acquisition have so far concentrated on the propositional side of the sentence, i.e. on the occurrence and interplay of semantic roles like agent, benefactive, objective, etc. and their syntactic expression.
Stephany, Ursula
core  

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 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  

Емпіричне дослідження дидактичних умов поєднання словесних методів навчання у початковій школі (Empirical research of didactic conditions of combination of verbal methods of teaching in primary school) [PDF]

, 2017
The author reveals the features of combination of verbal methods of teaching in the primary school on the basis of taking into account coordination of its structural components (individual ways of teaching, content motion of teaching material) and ...
Андросова, Н. (N. Androsova)
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