1. Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?. (17th December 2015) Authors: Laccetta, Gianluigi; Toschi, Benedetta; Fogli, Antonella; Bertini, Veronica; Valetto, Angelo; Consolini, Rita Other Names: Muraskas Jonathan Academic Editor. Journal: Case reports in pediatrics Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Maternally derived 15q11.2‐q13.1 duplication in a child with Lennox–Gastaut‐type epilepsy and dysmorphic features: Clinical‐genetic characterization of the family and review of the literature. Issue 2 (14th November 2016) Authors: Bonuccelli, Alice; Valetto, Angelo; Orsini, Alessandro; Michelucci, Angela; Ferrari, Anna Rita; Elia, Maurizio; Bertini, Veronica Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. (October 2019) Authors: Orsini, Alessandro; Valetto, Angelo; Bertini, Veronica; Esposito, Mariagrazia; Carli, Niccolò; Minassian, Berge A.; Bonuccelli, Alice; Peroni, Diego; Michelucci, Roberto; Striano, Pasquale Journal: Seizure Issue: Volume 71(2019) Page Start: 247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?. (11th February 2019) Authors: Milone, Roberta; Masson, Riccardo; Di Cosmo, Caterina; Tonacchera, Massimo; Bertini, Veronica; Guzzetta, Andrea; Battini, Roberta Journal: Child neurology open Issue: Volume 6(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature. (2nd September 2021) Authors: Bertini, Veronica; Giuliani, Cecilia; Ferreri, Maria Immacolata; Orsini, Alessandro; Bonuccelli, Alice; Peroni, Diego; Bonaglia, Clara; Valetto, Angelo Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 34:Number 17(2021) Page Start: 2918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 3p26.3 terminal deletions: a challenge for prenatal genetic counseling. (30th January 2017) Authors: Bertini, Veronica; Azzarà, Alessia; Toschi, Benedetta; Gana, Simone; Valetto, Angelo Journal: Prenatal diagnosis Issue: Volume 37:Number 2(2017) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A 47, XX, +der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism. Issue 9 (29th July 2013) Authors: Valetto, Angelo; Bertini, Veronica; Toschi, Benedetta; Simi, Paolo Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion. Issue 2 (June 2017) Authors: Milone, Roberta; Valetto, Angelo; Bertini, Veronica; Sicca, Federico Journal: Epileptic disorders Issue: Volume 19:Issue 2(2017) Page Start: 222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?. Issue 2 (18th December 2018) Authors: Kurtas, Nehir Edibe; Xumerle, Luciano; Giussani, Ursula; Pansa, Alessandra; Cardarelli, Laura; Bertini, Veronica; Valetto, Angelo; Liehr, Thomas; Clara Bonaglia, Maria; Errichiello, Edoardo; Delledonne, Massimo; Zuffardi, Orsetta Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 2(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗