Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis.
Maria TaboadaDiego Martínez HernándezBelén PiloAdriano Jiménez-EscrigPeter N. RobinsonMaría Jesús SobridoPublished in: BMC Medical Informatics Decis. Mak. (2012)