1. Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome. Issue 8 (14th April 2014) Authors: Di Benedetto, Daniela; Musumeci, Sebastiano Antonino; Avola, Emanuela; Alberti, Antonino; Buono, Serafino; Scuderi, Carmela; Grillo, Lucia; Galesi, Ornella; Spalletta, Angela; Giudice, Mariangela Lo; Luciano, Daniela; Vinci, Mirella; Bianca, Sebastiano; Romano, Corrado; Fichera, Marco Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1923 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems. Issue 6 (23rd April 2013) Authors: Barone, Chiara; Bianca, Sebastiano; Luciano, Daniela; Di Benedetto, Daniela; Vinci, Mirella; Fichera, Marco Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗