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Updating the profile of C-terminal MECP2 deletions 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

UV exposure and protection against allergic airways disease

Asthma is a chronic inflammatory disease of the small and large conducting airway mucosa characterised by Th2 cell immunity.

The factor structure of the eating disorder examination in clinical and community samples

We investigated whether children who are heavier at birth have an increased risk of type 1 diabetes

Skull base osteomyelitis: Fungal versus Bacterial Infection

An 18-year (1990-2007) retrospective review of patients with Skull-base osteomyelitis (SBO) presenting to Westmead Hospital was performed.

Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

Neuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia.

Toward improved prediction of risk for atopy and asthma among preschoolers: A prospective cohort study

Atopy and asthma are commonly initiated during early life, and there is increasing interest in the development of preventive treatments for at-risk children.

Early motor development is part of the resource mix for language acquisition -

Early motor development is part of the resource mix for language acquisition - a commentary on Iverson's 'Developing language in a developing body: the relat...

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.

Providing feedback on adherence increases use of preventive medication by asthmatic children

This study investigates the impact of measuring adherence and providing feedback on medication usage by children with unstable asthma.