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Research

Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

Research

The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...

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Respiratory impedance and bronchodilator responsiveness in healthy children aged 2-13 years

There is limited information on changes in FOT outcomes in healthy children beyond the preschool years and the level of bronchodilator responsiveness (BDR)...

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Exposure to pesticides and the risk of childhood brain tumors

This Australian case-control study of CBT investigated whether exposures to pesticides before pregnancy, during pregnancy and during childhood, were...

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Environmental determinants of islet autoimmunity (ENDIA): a pregnancy to early life cohort study in children at-risk of type 1 diabetes

These observations suggest factors in the modern environment promote pancreatic islet autoimmunity and destruction of insulin-producing beta cells.

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Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Our results demonstrate the value of sex-specific GWAS to unravel the sexually dimorphic genetic underpinning of complex traits.

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High tidal volume ventilation does not exacerbate acid-induced lung injury in infant rats

The impact of mechanical ventilation with high VT-low PEEP in infant rats with preinjured lungs is unknown.

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Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.

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The diagnostic odyssey to Rett syndrome: The experience of an Australian family

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

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Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling

Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adult