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Showing results for "Neuromuscular disorders "
Overall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment
We report on the prevalence and trends of hypospadias which indicate that the prevalence of hypospadias continues to increase internationally
Increased safe sun exposure in winter therefore represents a plausible means of reducing fasting blood sugar in children with obesity
Here we review the metabolic effects of exposure to ultraviolet radiation, focusing on the effects of phototherapies
Aleksandra Filipovska BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for
The aim of the current project is to explore view of youth with lived experiences and their caregiver on the role of parent/caregivers and family in the prevention and treatment of anxiety and depression in adolescents in low- and middle- income countries.
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
To analyze the incidence of type 1 diabetes in 0- to 14-year olds in Western Australia, from 1985 to 2002, by region and socioeconomic status.