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Showing results for "Neuromuscular disorders "
Impact for Tourette's, the first survey of its kind in Australia provides comprehensive national data on the daily challenges faced by children and adults living with tic-related disorders like Tourette syndrome
Amy Andrew Carol Jacinta Videos Finlay-Jones Whitehouse Watch and listen to Andrew Bower Freeman BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.
The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD
The prevalence of intellectual disability has risen in WA over the last 10 years with most of this increase due to mild or moderate intellectual disability
The objective of this study is to compare the time trend of reported diagnoses of autism spectrum disorder, hyperkinetic disorder, Tourette's syndrome, and...
There is increasing attention on fetal alcohol spectrum disorders (FASD) in Australia, but there are limited data on their birth prevalence.
This paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...
This study shows that timing is important for understanding intergenerational transmission of deliberate self-harm risk