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Research

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.

Research

Long-term employment among people at ultra-high risk for psychosis

We sought to investigate the long-term unemployment rate and baseline predictors of employment status at follow-up in a large ultra-high risk cohort.

Research

Environment Changes Genetic Effects on Respiratory Conditions and Allergic Phenotypes

Genotype-phenotype associations relating to bronchitis and allergy susceptibility are dependent on the environment

Research

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy

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What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses

There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome

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Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathways

Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs

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Basophil counts in PBMC populations during childhood acute wheeze/asthma are associated with future exacerbations

Our findings suggest that the proportion of degranulated basophils can also be associated with recurrent exacerbations

Research

Brief social attention bias modification for children with autism spectrum disorder

Social attention can be acutely modified in children with ASD, with an increased tendency to orient attention toward faces after brief social attention training

Research

Development of an opsonophagocytic killing assay for Group A Streptococcus

Group A Streptococcus (GAS) or Streptococcus pyogenes is responsible for an estimated 500,000 deaths worldwide each year.