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Level of purposeful hand function as a marker of clinical severity in Rett syndromeWe investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
Research
Valproate and risk of fracture in Rett syndromeThis study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
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Early determinants of fractures in Rett syndromeThe goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
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Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
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Down Syndrome Clinical Trial- BTD-001Helen Jenny Peter Leonard Downs Richmond MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Program Head, Development
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Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trialHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08
The list of The Siblings Project publications
The studies this project has conducted
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Research
THINK BIG - Neurodevelopmental DisordersAmy Andrew Helen Jenny Martyn Melissa Videos Finlay-Jones Whitehouse Watch and listen to Andrew Leonard Downs Symons Licari BPsych(Hons), MPsych(