Publication CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Publication Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI a2(VI) chain.
Publication MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project.
Publication Plasma vascular endothelial growth factor A and placental growth factor: novel biomarkers of pulmonary hypertension in congenital diaphragmatic hernia.
Publication Genetic variation in PBMC-produced IFN-? and TNF-a associations with relapse in multiple sclerosis.
Publication Metabolic syndrome from adolescence to early adulthood: effect of infancy-onset dietary counseling of low saturated fat: the Special Turku Coronary Risk Factor Intervention Project (STRIP).
Publication Management of paediatric spontaneous pneumothorax: a multicentre retrospective case series.
Publication Longitudinal associations between cyber-bullying perpetration and victimization and problem behavior and mental health problems in young Australians.
