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Research

Seizures in Rett syndrome: an overview from a one-year calendar study

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

Research

The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of age

In this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...

Research

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Research

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Research

Rare childhood cancers—an increasing entity requiring the need for global consensus and collaboration

Rare childhood cancers have not benefited to the same extent from the gains that have been made for their frequently occurring counterparts.

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...

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Spatial and temporal variation in type 1 diabetes incidence in Western Australia from 1991 to 2010: Increased risk at higher latitudes and over time

This study analysed spatial and historical variation in childhood incidence of type 1 diabetes mellitus (T1DM) among Western Australia's 36 Health Districts...

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No population bias to left-hemisphere language in 4-year-olds with language impairment

An apparent paradox in the field of neuropsychology is that people with atypical cerebral lateralization do not appear to suffer any cognitive disadvantage,...

Research

Pandemic clinical case definitions are non-specific

During the early phases of the 2009 pandemic, subjects with influenza-like illness only had laboratory testing specific for the new A(H1N1)pdm09 virus.

Research

Community participation: Conversations with parent-Carers of young women with Rett syndrome

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...