Abstract:The immense progress in molecular biology, observed in the last decades has led to a fundamental change in our understanding of the etiology of human diseases. The whole genome analyses, both DNA sequencing and microarray Comparative Genomic Hybridization allowed for identification of previously unidentified diseases and syndromes. Therefore, in difficult-to-diagnose cases, clinical diagnosis is being replaced by molecular diagnosis (molecular dysmorphology, genomic medicine). For both scientific development o… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.