Publication Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development.
Publication X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.
Publication Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy.
Publication Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
