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Influence of the environment on participation in social roles for young adults with down syndrome

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Genome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits...

Genetic susceptibility to otitis media in childhood

Reviewed in this article these studies have identified positive association at 21 genes with association at five of these replicated in independent populations.

To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of Wellbeing

The aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.

Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe)

To investigate whether variants in cardiovascular candidate genes, some of which have been previously associated with type 2 diabetes (T2D), diabetic...

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome

Lessons from the first year of the WAIVE study investigating the protective effect of influenza vaccine

Influenza is major cause of paediatric hospitalisation. Influenza vaccine was offered to all children aged 6-59 months resident in Western Australia in 2008

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...