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Research

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia

Research

Influenza vaccine effectiveness and uptake in children at risk of severe disease

Participation in the preschool influenza vaccination program remains low with parents unconvinced of the benefits and safety of influenza vaccine

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A Prospective Ultrasound Study of Prenatal Growth in Infant Siblings of Children With Autism

Identified no significant differences between the high- and low-risk fetuses in the rate of prenatal head and body growth throughout the 2nd and 3rd-trimester

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Choosing primary endpoints for clinical trials of health care interventions

This narrative review describes the evolution, range and relative strengths and weaknesses of endpoints used in late phase trials

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Azithromycin reduces airway inflammation induced by human rhinovirus in lung allograft recipients

Our data illustrate that rhinovirus infection is capable of infecting upper and lower airway epithelial cells, driving cell death and inflammation

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Confounding effects of gavage in mice: Impaired respiratory structure and function

It is therefore clear that gavage can have significant impacts on experimental animals in terms of their stress response and overall morbidity and mortality

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Elevated IL-5 and IL-13 responses to egg proteins predate the introduction of egg in solid foods in infants with eczema

Elevated egg-specific Th2 cytokine responses were established prior to egg ingestion at 4months and were not significantly altered by introduction of egg

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The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU...

Research

Pediatric Brain Tumors: Innovative Genomic Information Is Transforming the Diagnostic and Clinical Landscape.

This article summarizes data from collaborative group and institutional trials that have advanced the science of pediatric brain tumors.

Research

Maternal vitamin D deficiency alters fetal brain development in the BALB/c mouse.

Prenatal exposure to vitamin D is thought to be critical for optimal fetal neurodevelopment, yet vitamin D deficiency is apparent in a growing proportion of...