Results 131 to 140 of about 638,241 (310)

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

American 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, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Guide to the Networked Minds Social Presence Inventory v. 1.2 [PDF]

, 2003
This document introduces the Networked\ud Minds Social Presence Inventory. The\ud inventory is a self-report measure of social\ud presence, which is commonly defined as the\ud sense of being together with another in a\ud mediated environment.
Biocca, Professor Frank, Harms, Professor Chad   +1 more
core  

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

Verum focus and polar questions [PDF]

Bucharest Working Papers in Linguistics, 2012
We argue that some word order phenomena in Romanian and Sardinian are the result of a checking operation in the left periphery involving verum focus (i.e. focus on the polarity component of the sentence).
Ion Giurgea, Eva-Maria Remberger
doaj  

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

Ситуація готовності до здійснення дії як компонент категорії проспективності та засоби її вираження у сучасних романських мовах (The situation of readiness for action as a prospectivity component and its modes of expression in the modern romance languages) [PDF]

, 2016
Стаття присвячена вивченню ситуації готовності до здійснення дії як компонента категорії проспективності. Проспективність розглядається в контексті взаємодії категорій аспектуальності, модальності та темпоральності.
Кірковська, І. (Kirkovska)
core  

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

American 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, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Mathematics for Non-Science Majors Chemistry Course [PDF]

, 2002
A chemistry course developed for non-science majors has been taught at Virginia Commonwealth University for the past five years. CHEM 112 uses current event articles from science magazines to make use of a verbal channel of learning in non-science majors,
Shillady, D. D.
core   +1 more source

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

American 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, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

A novel multi-measure approach to study medical students’ communication performance and predictors of their communication quality - a cross-sectional study

BMC Medical Education
Background Successful doctor-patient communication is a critical component of effective medical treatment and therefore plays a crucial role already in medical training.
Giulia Zerbini, Pia Schneider, Miriam Reicherts, Nina Roob, Kathrin Jung-Can, Miriam Kunz, Philipp Reicherts   +6 more
doaj   +1 more source