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Author/Creator Riberi, E.

1. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. Issue 4 (25th July 2017)

Authors:
Di Gregorio, E.; Riberi, E.; Belligni, E.F.; Biamino, E.; Spielmann, M.; Ala, U.; Calcia, A.; Bagnasco, I.; Carli, D.; Gai, G.; Giordano, M.; Guala, A.; Keller, R.; Mandrile, G.; Arduino, C.; Maffè, A.; Naretto, V.G.; Sirchia, F.; Sorasio, L.; Ungari, S.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 4(2017)
Page Start:
415
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult‐onset cerebellar ataxia in Italy. (3rd September 2018)

Authors:
Mancini, C.; Giorgio, E.; Rubegni, A.; Pradotto, L.; Bagnoli, S.; Rubino, E.; Prontera, P.; Cavalieri, S.; Di Gregorio, E.; Ferrero, M.; Pozzi, E.; Riberi, E.; Ferrero, P.; Nigro, P.; Mauro, A.; Zibetti, M.; Tessa, A.; Barghigiani, M.; Antenora, A.; Sirchia, F.
Journal:
European journal of neurology
Issue:
Volume 26:Number 1(2019)
Page Start:
80
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗