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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.

A global network of researchers led by Kerry M Stokes Chair of Child Health, Professor Pete Gething, is working to help support informed decision-making for malaria control at international, regional and national scales.

Parents, carers and educators have embraced an innovative tool in the battle to keep kids safe online - Beacon, an Australia-first, evidence-based cyber safety app.

Cystic fibrosis (CF) researchers are working hard to progress phage therapy as an alternative treatment to antibiotics in people with CF who develop life-threatening lung infections.

New research has revealed the extraordinary impact of a collaborative project between The Kids Research Institute Australia and the Papua New Guinea Institute of Medical Research, with rates of hospitalisation for pneumonia dropping by nearly 60 per cent thanks to the introduction of the pneumococcal vaccine

Patricia Ilchuk can still recall the day in August 2020 when her daughter Manna – then five weeks old – had her first seizure.