1. A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy. (25th August 2014) Authors: Caretto, Amelia; Primerano, Liviana; Novara, Francesca; Zuffardi, Orsetta; Genovese, Stefano; Rondinelli, Maurizio Other Names: Osmanağaoğlu Mehmet A. Academic Editor. Journal: Case reports in obstetrics and gynecology Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome. Issue 3 (5th January 2017) Authors: Novara, Francesca; Groeneweg, Stefan; Freri, Elena; Estienne, Margherita; Reho, Paolo; Matricardi, Sara; Castellotti, Barbara; Visser, W. Edward; Zuffardi, Orsetta; Visser, Theo J. Journal: Human mutation Issue: Volume 38:Issue 3(2017) Page Start: 260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia. (26th May 2015) Authors: Mantelli, Melissa; Avanzini, Maria Antonia; Rosti, Vittorio; Ingo, Daniela M.; Conforti, Antonella; Novara, Francesca; Arrigo, Giulia; Boni, Marina; Zappatore, Rita; Lenta, Elisa; Moretta, Antonia; Acquafredda, Gloria; de Silvestri, Annalisa; Cirillo, Valentina; Cicchetti, Elisa; Algeri, Mattia; ... Journal: British journal of haematology Issue: Volume 170:Number 6(2015:Sep.) Page Start: 826 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. Issue 8 (12th May 2014) Authors: Novara, Francesca; Stanzial, Franco; Rossi, Elena; Benedicenti, Francesco; Inzana, Francesca; Di Gregorio, Eleonora; Brusco, Alfredo; Graakjaer, Jesper; Fagerberg, Christina; Belligni, Elga; Silengo, Margherita; Zuffardi, Orsetta; Ciccone, Roberto Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2084 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. (February 2021) Authors: Bain, Jennifer M.; Thornburg, Olivia; Pan, Cheryl; Rome-Martin, Donnielle; Boyle, Lia; Fan, Xiao; Devinsky, Orrin; Frye, Richard; Hamp, Silke; Keator, Cynthia G.; LaMarca, Nicole M.; Maddocks, Alexis B.R.; Madruga-Garrido, Marcos; Niederhoffer, Karen Y.; Novara, Francesca; Peron, Angela; Poole-Di... Journal: Neurology Issue: Volume 7:Number 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. Issue 1 (December 2016) Authors: Errichiello, Edoardo; Novara, Francesca; Cremante, Anna; Verri, Annapia; Galli, Jessica; Fazzi, Elisa; Bellotti, Daniela; Losa, Laura; Cisternino, Mariangela; Zuffardi, Orsetta Journal: Molecular cytogenetics Issue: Volume 9:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. Issue 1 (December 2016) Authors: Errichiello, Edoardo; Novara, Francesca; Cremante, Anna; Verri, Annapia; Galli, Jessica; Fazzi, Elisa; Bellotti, Daniela; Losa, Laura; Cisternino, Mariangela; Zuffardi, Orsetta Journal: Molecular cytogenetics Issue: Volume 9:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. (May 2021) Authors: Raviglione, Federico; Douzgou, Sofia; Scala, Marcello; Mingarelli, Alessia; D'Arrigo, Stefano; Freri, Elena; Darra, Francesca; Giglio, Sabrina; Bonaglia, Maria C; Pantaleoni, Chiara; Mastrangelo, Massimo; Epifanio, Roberta; Elia, Maurizio; Saletti, Veronica; Morlino, Silvia; Vari, Maria Stella; D... Journal: Seizure Issue: Volume 88(2021) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation. Issue 5 (16th March 2014) Authors: Merli, Pietro; Novara, Francesca; Montagna, Daniela; Benzo, Serena; Tanzi, Matteo; Turin, Ilaria; De Amici, Mara; Merli, Angelo; Zuffardi, Orsetta; Marseglia, Gian Luigi Journal: Pediatric allergy and immunology Issue: Volume 25:Issue 5(2014) Page Start: 503 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Impact of Different Measures of Body Size on the Radiation Dose During Coronary Angiography and Percutaneous Coronary Intervention: Results from a Large Single Center Cohort. (May 2022) Authors: Verdoia, Monica; Pipan, Pierpaolo; Viola, Orazio; Francesca Brancati, Marta; La Cognata, Sara; Novara, Francesca; Bristot, Filippo; D'Amico, Giuseppina; Ravetto, Cinzia; Fusco, Massimo; Giachino, Paolo; Tonella, Manuela; Maccagni, Davide; Soldà, Pier Luigi; Marcolongo, Marco Journal: Angiology Issue: Volume 73:Number 5(2022) Page Start: 478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗