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Research

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

Research

Fetal growth and risk of childhood Acute Lymphoblastic Leukemia

The relation between intrauterine growth and risk of childhood acute lymphoblastic leukemia was investigated in an Australian population-based case-control...

Research

Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...

Research

The diagnosis of autism in a female: could it be Rett syndrome?

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

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

Functioning and post-school transition outcomes for young people with Down syndrome

Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...

Research

Changes in caesarean delivery rates in Western Australia from 1995 to 2010 by gestational age at birth

The objective of this paper was to measure changes in caesarean delivery rates for primiparous women in Western Australia during 1995–2010 stratified by...

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

Association between early bacterial carriage and otitis media in Aboriginal and non-Aboriginal children

Streptococcus pneumoniae (Pnc), nontypeable Haemophilus influenzae (NTHi) and Moraxella catarrhalis (Mcat) are the most important bacterial pathogens...

Research

Parental occupational exposure to engine exhausts and childhood brain tumors

Parental occupational exposure to engine exhausts and childhood brain tumors.