This effect of gestational age on rehospitalisation for infants born preterm is highest in the first year post-discharge, but almost disappeared by adolescence ...

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

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management ...

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

The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability. ...

• 1. Telethon Kids Institute
• Our research
• Brain and Behaviour
• Development and Disability
• Child Disability

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. ...

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

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• December 2008

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• September 2007

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

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

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

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

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is... ...

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

To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• August 2021