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Research

Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells

This study assessed an alternative approach, using a small scale halide assay that can be adapted for a personalized high throughput setting to analyze CFTR function of pAEC.

Research

A randomised, controlled clinical trial of narrowband UVB phototherapy for clinically isolated syndrome: The PhoCIS study

This study provides a basis for further studies to determine if there are any benefits of the therapeutic effects of narrowband UVB radiation on MS progression

Research

Vaccine-preventable child deaths in New South Wales from 2005 to 2014: How much is preventable?

To identify and describe potentially vaccine-preventable child deaths in New South Wales (NSW).

Research

CDKL5 variants: Improving our understanding of a rare neurologic disorder

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.

Research

Incidence of and risk factors for hospitalisations due to vascular complications: A population-based type 1 diabetes cohort (n=1316) followed into early adulthood

Determining the incidence of hospitalisations and risk factors for vascular complications experienced during early adulthood in patients with childhood T1D

Research

Physician training programs significantly improve diagnosis in cases coded as anaphylaxis over time: A major factor compounding time-trend data?

We conducted an investigation of all cases coded as anaphylaxis presenting to the main tertiary PED in Perth, Australia, where all coding is performed by staff.

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Evolving Identification of Blood Cells Associated with Clinically Isolated Syndrome: Importance of Time since Clinical Presentation and Diagnostic MRI

This study aimed to identify a CIS peripheral blood signature that may provide clues for potential immunomodulatory approaches early in disease

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The bioenergetics of inflammation: insights into obesity and type 2 diabetes

Diabetes mellitus is one of the most common chronic metabolic disorders worldwide, and its incidence in Asian countries is alarmingly high.

Research

An exposome perspective: Early-life events and immune development in a changing world

Here we review the historical origins of exposome research and define a new concept, the metaexposome