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The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
Accessing the ORIGINS cohort, database or biological samples involves a process of review and approval.
The ORIGINS Community Wellbeing during COVID-19 Project is investigating the impact of the COVID-19 pandemic on emotional wellbeing, family functioning and perceived stress on families.
This sub-project will be using ORIGINS data to explore the risk and protective factors of obesity from birth to early childhood.
The Antenatal Colostrum Expression (ACE) Study aims to determine whether hand expressing of colostrum in the last few weeks of pregnancy can help new mothers to breastfeed.