1. A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata. Issue 8 (10th June 2021) Authors: Cordisco, Adalgisa; Pelo, Elisabetta; Di Tommaso, Mariarosaria; Biagiotti, Roberto Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 8(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel GRK1 mutation in an Italian patient with Oguchi disease. (2nd January 2018) Authors: Mucciolo, Dario Pasquale; Sodi, Andrea; Murro, Vittoria; Passerini, Ilaria; Palchetti, Simona; Pelo, Elisabetta; Virgili, Gianni; Rizzo, Stanislao Journal: Ophthalmic genetics Issue: Volume 39:Number 1(2018) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. (2nd November 2018) Authors: Sodi, Andrea; Passerini, Ilaria; Bacherini, Daniela; Boni, Luca; Palchetti, Simona; Murro, Vittoria; Caporossi, Orsola; Mucciolo, Dario Pasquale; Franco, Fabrizio; Vannozzi, Lorenzo; Torricelli, Francesca; Pelo, Elisabetta; Rizzo, Stanislao; Virgili, Gianni Journal: Ophthalmic genetics Issue: Volume 39:Number 6(2018) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. En face OCT in choroideremia. (2nd November 2019) Authors: Murro, Vittoria; Mucciolo, Dario Pasquale; Sodi, Andrea; Giorgio, Dario; Passerini, Ilaria; Pelo, Elisabetta; Virgili, Gianni; Rizzo, Stanislao Journal: Ophthalmic genetics Issue: Volume 40:Number 6(2019) Page Start: 514 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fundus phenotype in retinitis pigmentosa associated with EYS mutations. (3rd September 2018) Authors: Mucciolo, Dario Pasquale; Sodi, Andrea; Passerini, Ilaria; Murro, Vittoria; Cipollini, Francesca; Borg, Isabella; Pelo, Elisabetta; Contini, Elisa; Virgili, Gianni; Rizzo, Stanislao Journal: Ophthalmic genetics Issue: Volume 39:Number 5(2018) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing. (4th February 2020) Authors: Bartalucci, Niccolò; Romagnoli, Simone; Contini, Elisa; Marseglia, Giuseppina; Magi, Alberto; Guglielmelli, Paola; Pelo, Elisabetta; Vannucchi, Alessandro M Journal: Clinical chemistry Issue: Volume 65:Number 12(2019) Page Start: 1605 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study). (30th November 2022) Authors: Grati, Francesca Romana; Bestetti, Ilaria; De Siero, Daria; Malvestiti, Francesca; Villa, Nicoletta; Sala, Elena; Crosti, Francesca; Parisi, Valentina; Nardone, Anna Maria; Di Giacomo, Gianluca; Pettinari, Antonella; Tortora, Giada; Montaldi, Annamaria; Calò, Annapaola; Saccilotto, Donatella; Zan... Journal: Prenatal diagnosis Issue: Volume 42:Number 13(2022) Page Start: 1575 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Study by next generation sequencing of sudden cardiac death (SCD). Issue 1 (December 2019) Authors: Boschi, Beatrice; Giotti, Irene; Pelo, Elisabetta; Ricci, Ugo Journal: Forensic science international Issue: Volume 7:Issue 1(2019) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System. (19th March 2017) Authors: Gerundino, Francesca; Giachini, Claudia; Contini, Elisa; Benelli, Matteo; Marseglia, Giuseppina; Giuliani, Costanza; Marin, Francesca; Nannetti, Genni; Lisi, Ermanna; Sbernini, Fiammetta; Periti, Enrico; Cordisco, Adalgisa; Colosi, Enrico; D'ambrosio, Valentina; Mazzi, Marta; Rossi, Maya; Staderi... Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 30:Number 6(2017) Page Start: 710 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗