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Research

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

Research

Patterns trends and increasing disparities in mortality for Aboriginal and non-Aboriginal infants born in Western Australia 1980-2001: population database study

Since there are known disparities between Aboriginal and non-Aboriginal populations in Australia, trends in infant mortality rates can be used to assess the...

Research

Safety and immunogenicity of a combined DTPa-IPV vaccine administered as a booster from 4 years of age: a review

A combined DTPa-IPV booster vaccine was administered as a 4th or 5th dose after DTPa or DTPw priming.

Research

The First Research Report: patterns and trends in mortality of Western Australian infants, children and young people 1980-2002

The Advisory Council on the Prevention of Deaths of Children and Young People today officially released this report.

Research

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.

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Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome

People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general...

Research

Novel peptide-based drugs for the treatment of sonic hedgehog-dependent medulloblastoma

Medulloblastoma, the most common pediatric malignant brain tumor, consists of at least four distinct molecular subgroups.

Research

Cohort profile of the HealthNuts study: Population prevalence and environmental/genetic predictors of food allergy

HealthNuts is a single-centre, multi-wave, population-based longitudinal study designed to assess prevalence, determinants, natural history and allergy...

Research

TagDust2: A generic method to extract reads from sequencing data.

Arguably the most basic step in the analysis of next generation sequencing data (NGS) involves the extraction of mappable reads from the raw reads...

Research

Oesophageal atresia and tracheo-oesophageal fistula in Western Australia: Prevalence and trends

A recent international study reported a higher prevalence of oesophageal atresia with or without tracheo-oesophageal fistula (OA±TOF) in Western Australia (WA).