Publication Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Publication Incidence and clinical presentation of dysarthria and dysphagia in the acute setting following paediatric traumatic brain injury.
Publication Talking EPC - speech pathologists' views of the Enhanced Primary Care items four years on.
Publication Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools.
