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Reports and Findings

A review of structural brain abnormalities in Pallister-Killian syndrome

PKS is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associate with neurological defects.

Feasibility of a commercial smartphone application for dietary assessment in epidemiological research and comparison with 24-h dietary recalls

Our study tested the relative validity of a smart phone app for uses as an epidemiological dietary assessment tool, compared with a standard assessment method.

An in silico pipeline to filter the Toxoplasma gondii proteome for proteins that could traffic to the host cell nucleus and influence host cell epigenetic regulation

To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins

Humidified high-flow nasal cannula oxygen for bronchiolitis: Should we go with the flow?

Current NICE 2015 guidelines for bronchiolitis state that the use of HFNC is becoming widespread without demonstration of additional efficacy.

Longitudinal study of language and speech of twins at 4 and 6 years: Twinning effects decrease, zygosity effects disappear, and heritability increases

This study investigates the heritability of language, speech, and nonverbal cognitive development of twins at 4 and 6 years of age.

A national guideline for the assessment and diagnosis of autism spectrum disorders in Australia

The Guideline aims to create greater consistency in diagnostic practices across the country to ensure individuals on the autism spectrum can receive the optimal care

Cerebral palsy after assisted reproductive technology: a cohort study

To calculate the birth prevalence of CP after ART and compare the clinical outcomes of children with CP after ART or natural conception.

The clinical utility of lung clearance index in early cystic fibrosis lung disease is not impacted by the number of multiple-breath washout trials

This study aimed to determine if relationships between LCI and clinical outcomes of CF lung disease differ when only two acceptable MBW trials are assessed.