Publication Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
Publication Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools.
Publication Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Publication Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
