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] Year Filters: First Letter Of Last Name is V and Author is Vidal, Silvia [Clear All Filters]
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017;38(2):148-151. doi:10.1002/humu.23145.
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.