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The diagnosis of autism in a female: could it be Rett syndrome?

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

Seizures in Rett syndrome: an overview from a one-year calendar study

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

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...

Early progressive encephalopathy in boys and MECP2 mutations

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

NTNG1 mutations are a rare cause of Rett syndrome

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

Infectious Disease Implementation Research

The Infectious Disease Implementation Research Team is a multi-disciplinary group researching the best way to implement infectious disease prevention and treatment strategies to improve the wellbeing of children and teenagers.

Community bands together to create a brighter future for our kids

Ten-year-old Isabelle decided to make and sell loom band bracelets to raise money for The Kids Research Institute Australia.

Giving culture runs deep at Centurion

Vacation students from logistics and transport company Centurion raised over five thousand dollars for The Kids Research Institute Australia through a series of fundraising activities.

Research Communications Officer

The Opportunity The Communications and Development team implements the Institute's overall communications, marketing and philanthropy strategies, as