Publication X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.
Publication Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.
Publication New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Publication Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.
Publication Maintaining an agenda for children: the role of data in linking policy, politics and outcomes.
