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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Updating the profile of C-terminal MECP2 deletions

Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.

ATOMIC Ears Study

We are looking for children to take part in an important study that will assess a new treatment designed to prevent ongoing ear infections in kids having grommet surgery.

PICOBOO Study

This is your chance to play a vital role in shaping Australia's COVID-19 vaccine program

RHYME study

Contact us If you'd like to get in touch, please contact us by phone or email. Phone: 0400 450 240 Email: rhyme@telethonkids.org.au Background The

Meningococcal studies

Contact us If you'd like to get in touch, please contact us by phone or email. Phone: 0400 450 240 Email: vtg@thekids.org.au Meningococcus (Neisseria

Never Let a Crisis Go to Waste: Opportunities to Reduce Social Disadvantage from COVID‐19

This article identifies and examines a range of policy reform opportunities in Australia arising from COVID-19. The authors demonstrate how COVID-19 presents unique opportunities for rethinking and redesigning long-standing rules and regulations covering how people live and work in Australia.

A place for neutrophils in the beneficial pathogen-agnostic effects of the BCG vaccine

The BCG vaccine has long been recognized for reducing the risk to suffer from infectious diseases unrelated to its target disease, tuberculosis. Evidence from human trials demonstrate substantial reductions in all-cause mortality, especially in the first week of life. Observational studies have identified an association between BCG vaccination and reduced risk of respiratory infectious disease and clinical malaria later in childhood.