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Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

Our results indicate that an increase in the prelabour caesarean delivery rate for private patients in private hospitals has been driving the increase in the...

Despite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower.

Publicly insured women usually have a different demographic background to privately insured women, which is related to poor neonatal outcomes after birth.

Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear.

We identified several novel candidate genes which warrant further analysis in cohorts matched more precisely for clinical phenotypes.

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...

Breastfeeding has been associated with multiple developmental advantages for the infant; however, there have also been a number of studies that find...

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children;

To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment.