Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
Irene Madrigal, Maria Isabel Alvarez-Mora, Olof Karlberg, Laia Rodríguez-Revenga, Dei M Elurbe, Raquel Rabionet, Antonio Mur, Juan Pie, Francisca Ballesta, Sascha Sauer, Ann-Christine Syvänen, Montserrat Milà
Journal of Clinical Pathology Dec 2014, 67 (12) 1099-1103; DOI: 10.1136/jclinpath-2014-202537