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Research
Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
Research
Seizures in Rett syndrome: an overview from a one-year calendar studyInformation 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 ageIn 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 mutationsMECP2 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 syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
The Infectious Disease Implementation Research Team is a multi-disciplinary group researching the best way to implement infectious disease prevention and treatment strategies to improve the wellbeing of children and teenagers.
The mission of the Vaccine Trials Group is to improve the health of the community through immunisation and the prevention of infectious diseases.
The Indigenous Genomics Group aims to build Indigenous leadership in genomic and data sciences, precision health, and ethics to improve health equity and the wellbeing of Indigenous people, families and communities.
The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases.
Research
Targeting the mucosal immune system in a pregnant mouse model to prevent experimental allergic airways disease in the offspringStudies in Europe show exposure of pregnant women to high levels of microbial products stimulate immune function maturation in their offspring