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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...
Variation over time in medical conditions and health service utilization of children with Down syndrome.
The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children;
The etiology of autism spectrum disorders is unknown but there are claims of increasing prevalence in many countries.
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.