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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...

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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...

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Estimation of quantitative levels of diesel exhaust exposure and the health impact in the contemporary Australian mining industry

To estimate the levels of exposure to diesel exhaust expressed by EC in the mining industry and to describe the risk of lung cancer that may result from it.

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Establishing a process for conducting cross-jurisdictional record linkage in Australia

We outline the processes involved in conducting a Proof of Concept data linkage project including the implementation of national data integration principles

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Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma

Malignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos.

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Maternal life stress events in pregnancy link to children's school achievement at age 10 years

Maternal antenatal exposure to life stress events has differing effects on the school performance of male and female offspring.

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Parental occupational exposure to engine exhausts and childhood brain tumors

Increased risks were observed for maternal exposure to diesel exhaust any time before the child's birth and paternal exposure around the time of the child's...