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Research

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

This paper analyses genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional...

Research

Prevalence and risk factors for parent-reported recurrent otitis media during early childhood

The objective was to describe the prevalence and risk factors of recurrent otitis media (rOM) in an urban Australian population at 3 years of age.

Research

Vitamin D status and predictors of serum 25-hydroxyvitamin D concentrations in Western Australian adolescents

Using prospective data from the Western Australian Pregnancy Cohort (Raine) Study, we investigated vitamin D status and predictors of serum 25-hydroxyvitamin...

MECP2 duplication syndrome (MDBase)

MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.

Research snapshots

Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.

Altered attainment of developmental milestones

Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd

Validating the Rett Syndrome Gross Motor Scale

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.

Early determinants of fractures in Rett syndrome

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

Impact of scoliosis surgery on daily living

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.