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 Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.
Publication DiffVar: a new method for detecting differential variability with application to methylation in cancer and aging.
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?
