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Author Title Type [ Year] Filters: Keyword is Adolescent and Author is Vidal, Enrique [Clear All Filters]
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013;110(1-2):73-7. doi:10.1016/j.ymgme.2013.04.021.