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We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

We conclude that the novel chocolate-based formulation of midazolam provides improved tolerability while remaining efficacious

Our findings demonstrate the utility of unsupervised analysis in elucidating heterogeneity in asthma pathogenesis

Whether airway mucosal acidification drives early progressive lung disease is controversial

Findings provide preliminary evidence that early psychosis is associated with reduced heart rate variability

Investigating whether the presence and severity of nausea and vomiting may be related to symptom severity in offspring with autism spectrum disorder

We identified new asthma loci, found new associations at loci implicated in the comorbidity of asthma plus hay fever and confirmed nine known loci.

Identify entrenched areas of asthma management and treatment in which progress has stalled and to challenge current principles

Human adenosine deaminases (ADAs) modulate the immune response: ADA1 via metabolizing adenosine, a purine metabolite that inhibits pro-inflammatory and Th1 cytokine production, and the multi-functional ADA2, by enhancing T-cell proliferation and monocyte differentiation. Newborns are relatively deficient in ADA1 resulting in elevated plasma adenosine concentrations and a Th2/anti-inflammatory bias compared to adults.

The aim is to identify novel associations between fT3, fT4, and TSH and differentially methylated positions (DMPs) in the genome in subjects from 2 Australian cohorts. We performed an epigenome-wide association study (EWAS) of thyroid function parameters and DNAm using participants from Brisbane Systems Genetics Study and the Raine Study.