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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

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

Does otitis media in early childhood affect later behavioural development? Results from the Western Australian Pregnancy Cohort (Raine) Study

The relationship between early life episodes of otitis media and later behavioural development with adjustment for confounders.

Research

Moraxella catarrhalis Restriction-Modification Systems Are Associated with Phylogenetic Lineage and Disease

We observed an association between Type III DNA methyltransferase presence and Otitis Media-associated middle ear isolates

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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

Research

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

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.

Research

Topical antibiotics with steroids for chronic suppurative otitis media

To assess the effects of adding a topical steroid to topical antibiotics in the treatment of people with chronic suppurative otitis media