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Showing results for "autism"

Research

Impact for DCD

Melissa Gail Matt Jenny Andrew Videos Licari Alvares Cooper Downs Whitehouse Watch and listen to Andrew PhD PhD BCA Marketing, BSc Statistics and

Research

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

Research

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

Research

Health care utilization and costs for children and adults with duchenne muscular dystrophy

The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood

Research

Dental admissions in children under two years - A total-population investigation

This paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases.

Research

Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study

Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia.

Research

Working towards a shared framework in the diagnosis of neurodevelopmental disorders in Australia: A Gap Analysis

Amy Andrew Carol Jacinta Videos Finlay-Jones Whitehouse Watch and listen to Andrew Bower Freeman BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (

Research

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...