Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

Por Gianluigi Laccetta, Benedetta Toschi, Antonella Fogli, Veronica Bertini, Angelo Valetto, Rita Consolini
Publicado em 2015-01-01

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

Por Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini, Maria Adelaide Caligo
Publicado em 2018-07-01