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Research

Respiratory function in healthy Emirati children using forced oscillations

Forced oscillation technique measurements were feasible in Emirati school-children. New forced oscillation technique reference equation in Emirati children were derived.

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Using linked data to investigate developmental vulnerabilities in children of convicted parents

Although children of convicted parents experience a higher incidence of sociodemographic risk, their parents' criminal activity constitutes an independent risk factor for their development

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Side effects of medications used to treat childhood interstitial lung disease

Interstitial lung disease in children comprises a range of different rare diseases

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Evaluation of a public education campaign to support parents to reduce adolescent alcohol use

The Parents, Young People and Alcohol campaign achieved high awareness and positively influenced parental outcomes

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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

The purpose of this study was therefore to comprehensively examine the genetic architecture of Adams-Oliver syndrome in an extensive cohort

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Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.

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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.

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Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitro

Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease.

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Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder

ASD's are complex, pervasive and heterogeneous neurodevelopmental conditions with varying conditions, trajectories, significant male bias and unknown etiology.

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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.