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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).

The Sibling Project

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

Participation in the Wellbeing and Engagement collection in South Australian schools

In South Australian schools, students in Grade 4 to 12 are invited to participate in an annual survey about their wellbeing and engagement in school, referred to as the Wellbeing and Engagement Collection.

Expression of Interest (EOI) for Youth Advisory Group

Are you a young person (14-25 years old) who is Aboriginal and/or Torres Strait Islander and LGBTIQ?

Senior Research Officer – Making FASD History in the Pilbara

The Opportunity This is an opportunity for a Senior Research Officer experienced in conducting epidemiological and applied research, grant

Research Nurse/Officer

The Opportunity This opportunity is within the Neonatal Research Group at The Kids Research Institute Australia. Our core medical and clinical