Skip to content

Search

Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.

Data Descriptor: Monitoring transcription initiation activities in rat and dog

The promoter landscape of several non-human model organisms is far from complete

Plasma C4d as marker for lupus nephritis in systemic lupus erythematosus

In the present study, we sought to evaluate the complement activation product C4d as a marker for lupus nephritis in systemic lupus erythematosus (SLE).

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences.

Orthopaedic issues in Rett Syndrome

This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.

Motor abnormalities in Rett Syndrome

For most individuals, there is initial developmental progress followed by regression at around 6–30 months. The classic signs of RTT then become apparent.

Neuropsychological Aspects of Prevention and Intervention for Fetal Alcohol Spectrum Disorders in Australia

Barriers in addressing FASD in Australia include a drinking culture and large populations living in regional or remote communities with high risk populations.

Graphomotor skills in children with prenatal alcohol exposure and fetal alcohol spectrum disorder: A population-based study in remote Australia

Few studies have examined graphomotor skills in children with prenatal alcohol exposure (PAE) or fetal alcohol spectrum disorder (FASD)

Fine motor skills in a population of children in remote Australia with high levels of prenatal alcohol exposure and Fetal Alcohol Spectrum Disorder

we aim to create a profile of fine motor skills in a cohort of WA children; determine whether these differed in children with PAE or FASD and prevalence.