MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting

by Gatta, Valentina, Gennaro, Elena, Franchi, Sara, Cecconi, Massimiliano, Antonucci, Ivana, Tommasi, Marco, Palka, Giandomenico, Coviello, Domenico, Stuppia, Liborio, Grasso, Marina
Published 2013

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

by Gatta, Valentina, Palka, Chiara, Chiavaroli, Valentina, Franchi, Sara, Cannataro, Giovanni, Savastano, Massimo, Cotroneo, Antonio Raffaele, Chiarelli, Francesco, Mohn, Angelika, Stuppia, Liborio
Published 2014

Deregulation of sertoli and leydig cells function in patients with klinefelter syndrome as evidenced by testis transcriptome analysis

by D’Aurora, Marco, Ferlin, Alberto, Di Nicola, Marta, Garolla, Andrea, De Toni, Luca, Franchi, Sara, Palka, Giandomenico, Foresta, Carlo, Stuppia, Liborio, Gatta, Valentina
Published 2015