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This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

The Opportunity At The Kids Research Institute Australia, we are bringing together community, researchers, practitioners, policy makers and funders,

Hannah Tom Moore Snelling OAM BSc (Hons) GradDipClinEpi PhD BMBS DTMH GDipClinEpid PhD FRACP Head, Infectious Diseases Research Head, Infectious

This paper examines whether a Vitamin D deficiency during pregnancy affects the child's lung function predisposition towards lung disease such as asthma.

Tobias Jenny Strunk Mountain MD, PhD, FRACP MBA MClinEpi Head, Neonatal Health Program Manager, Neonatal Health / Protect Trial tobias.strunk@

Accurately screening fathers for perinatal mental health problems requires well-validated screening instruments that assess the expression of paternal perinatal mental distress. This study aimed to identify and describe the psychometric properties of perinatal mental health screening instruments administered to paternal cohorts within the past two decades. 

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. 

Mothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.