The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• June 2013

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• September 2011

Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

In 2009 a new swine-origin influenza virus A/H1N1 (A/H1N1 09) emerged, causing the century's first pandemic. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• July 2010

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• March 2011

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• June 2009

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• October 2006

Omar Merridee Sébastien Laurence Rishi Sury Terrance Timo Raelene W. Joost Elaskalani Wouters Malinge Cheung Kotecha Johns Lassmann Endersby ...

• 1. Telethon Kids Institute
• Projects

Christopher Peter Blyth Richmond CC PC MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP Director, Wesfarmers Centre of Vaccines and Infectious ...

• 1. Telethon Kids Institute
• Projects
• Past projects

Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• December 2023