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We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.
We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Novel findings in relation to genotype
Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.
We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.
Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.
Findings from the Banksia Hill Project revealed 89% of young people in detention who were assessed as part of the project had at least one form of severe neurodevelopmental impairment.
Researchers have made a world-first discovery on how to prevent severe respiratory infections in babies.
Within the Institute, we have a commitment to the highest standards of research with pro-active staff ensuring the lab environment is safe and secure.
Flow cytometry is a technology used to measure complex cell phenotype and functions. Our Flow Facility is equipped with 3 flow cytometers/analysers, one...