Publication A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
Publication A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
Publication A pilot study of the effect of (e, e)-2, 4-undecadienal on the offensive odour of trimethylamine.
Publication A preliminary investigation into psychosocial outcome and quality-of-life in adolescents following childhood traumatic brain injury
Publication A preliminary investigation of moral reasoning and empathy after traumatic brain injury in adolescents
Publication A primer for clinical researchers in the emergency department: Part V: How to describe data and basic medical statistics
