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Research

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience

Research

Selection of appropriate spirometry reference values in Aboriginal Australians

The Global Lung Function ‘Caucasian’ and ‘Other’ spirometry equations do not match healthy Aboriginal FEV1 and FVC data

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Could home-based FeNO measurements breathe new life into asthma management?

Developing a FeNO test that is affordable enough to allow daily measurements, patients will be able to access quantifiable data to assist them to monitor their asthma

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Identification of novel cerebellar developmental transcriptional regulators with motif activity analysis

The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development

Research

Systematic Review of the Effects of Ultraviolet Radiation on Markers of Metabolic Dysfunction

Here we review the metabolic effects of exposure to ultraviolet radiation, focusing on the effects of phototherapies

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Vitamin D metabolites are lower with active Crohn’s disease and spontaneously recover with development of remission

We aimed to characterise vitamin D metabolism in a cohort of patients with active and inactive Crohn’s disease

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Role of HLA-DQ typing and anti-tissue transglutaminase antibody titers in diagnosing celiac disease without duodenal biopsy in type 1 diabetes

HLA-DQ typing is not cost effective as a first-line screening test for CD in T1D patients because of over-representation of CD permissive HLA alleles in this group

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Exposure to bile leads to the emergence of adaptive signaling variants in the opportunistic pathogen pseudomonas aeruginosa

Adaptive variants of P. aeruginosa that arise following long term bile exposure enables the emergence of ecologically competitive sub-populations

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A qualitative examination of the cognitive and behavioural challenges experienced by children with fetal alcohol spectrum disorder

The findings suggest consistency between caregivers in their reports of the difficulties experienced by children with Fetal Alcohol Spectrum Disorder

Research

Pharmacological ablation of the airway smooth muscle layer—Mathematical predictions of functional improvement in asthma

Findings provide further proof of concept that pharmacological targeting of airway smooth muscle thickness will be beneficial and may be facilitated by azithromycin