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Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
The CIRCA DIEM Study is a clinical research study being coordinated by the Chronobiology Team at Telethon Kids Institute, who are based in Perth, Western Australia and involving research teams from around the world.
New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period
The Foundations of Lung Disease Team is focused on improving the diagnosis, treatment, and lifelong care of childhood lung disease.
Tobias Jenny Strunk Mountain MD, PhD, FRACP MBA MClinEpi Head, Neonatal Health Program Manager, Neonatal Health / Protect Trial tobias.strunk@
Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.
Hope ahead for children with CF, as life expectancy continues to grow thanks to research.