Publication A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Publication Patient and Process Factors Associated With Type of First Neuroimaging and Delayed Diagnosis in Childhood Arterial Ischemic Stroke.
Publication Inconsistencies and time delays in site-specific research approvals hinder collaborative clinical research in Australia.
Publication Understanding the causes of obesity in children with trisomy 21: hyperphagia vs physical inactivity.
Publication Cystatin C Based Equation Accurately Estimates Glomerular Filtration Rate in Children With Solid and Central Nervous System Tumours: Enough Evidence to Change Practice?
