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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

Towards evidence based care for Rett syndrome: a research model to inform management of rare disorders

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...

Research

"The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing children

This study compared strategies of propulsion and power generation at the ankle during late stance/early swing in both walking and running in children with...

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

Role of public and private funding in the rising caesarean section rate: A cohort study

Our results indicate that an increase in the prelabour caesarean delivery rate for private patients in private hospitals has been driving the increase in the...

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.