Results 161 to 170 of about 1,154,805 (294)

Teaching Oral Communications to Business and Professional Students

open access: yesDiscourse and Writing/Rédactologie, 1984
E.J. (Betty) Urquhart
doaj   +1 more source

The role of Research‐Practice Ambassadors in strengthening socially just and equitable partnership processes

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract Research‐Practice Partnerships seek to close the research‐practice gap through developing collaborative, authentic partnerships between researchers and community members. Our team has leveraged Research‐Practice Ambassadors to support socially just and equitable partnership processes in schools.
Danielle R. Hatchimonji   +8 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

open access: yesAmerican 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

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

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

open access: yesAmerican 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

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican 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

Spatial Detection of Microsphere Polystyrene Plastics and Molecular Remodeling within a Full‐Body Mouse with MALDI Trapped Ion Mobility Mass Spectrometry Imaging

open access: yesAngewandte Chemie, EarlyView.
Orally administered polystyrene microplastics accumulate in murine tissues and are detected using MALDI‐MSI with TIMS. Lipid profiling reveals decreases in hexosylceramides, sphingomyelins, and ether‐linked phospholipids, indicating altered metabolism.
Karina A. Vargas   +5 more
wiley   +2 more sources

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