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Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Journal Article published 30 Sep 2014 in Journal of Clinical Pathology volume 67 issue 12 on pages 1099 to 1103

Authors: 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