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Genotype and phenotype spectrum of NRAS germline variants

Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS

Repeated vaccination does not appear to impact upon influenza vaccine effectiveness against hospitalization with confirmed influenza

These findings reinforce current recommendations for annual influenza vaccination, particularly those at greatest risk of influenza disease.

Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorder

This study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestone…

Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconate

These results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatme…

CFTR-dependent defect in alternatively-activated macrophages in cystic fibrosis

CFTR-dependent imbalance of macrophage phenotypes and functions could contribute to the exaggerated inflammatory response seen in CF lung disease

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences.

Nurses are underutilised in antimicrobial stewardship - Results of a multisite survey in paediatric and adult hospitals

Nurses consider antimicrobial stewardship activities within their roles, but are underutilised in antimicrobial stewardship programs

Elizabeth Usher Memorial Lecture: Rethinking the clinical pathway for autism spectrum disorder and challenging the status quo

The aim of the paper is to outline the future of early identification and intervention of ASD and the research goals to be addressed to achieve this…