1. An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis. Issue 6 (14th October 2020) Authors: Errichiello, Edoardo; Arossa, Alessia; Iasci, Angela; Villa, Roberta; Ischia, Benedetta; Pavesi, Maria Angela; Rizzuti, Tommaso; Bedeschi, Maria Francesca; Zuffardi, Orsetta Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis. Issue 7 (July 2016) Authors: Protti, Alessandro; Ronchi, Dario; Bassi, Gabriele; Fortunato, Francesco; Bordoni, Andreina; Rizzuti, Tommaso; Fumagalli, Roberto Journal: Critical care medicine Issue: Volume 44:Issue 7(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic challenge of intrathoracic tissue misplacements: a thymic choristoma in a fetal lung. Issue 6 (2nd April 2019) Authors: Lopez, Gianluca; Croci, Roberto; Rizzuti, Tommaso; Ferrero, Stefano; Fusco, Nicola Journal: Thorax Issue: Volume 74:Issue 6(2019) Page Start: 624 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome. (27th May 2022) Authors: Rinaldi, Berardo; Cesaretti, Claudia; Boito, Simona; Villa, Roberta; Guerneri, Silvana; Borzani, Irene; Rizzuti, Tommaso; Marchetti, Daniela; Conte, Giorgio; Cinnante, Claudia; Triulzi, Fabio; Persico, Nicola; Iascone, Maria; Natacci, Federica Other Names: Van den Veyver Igna guestEditor. Journal: Prenatal diagnosis Issue: Volume 42:Number 7(2022) Page Start: 927 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Histological characterization of placenta in COVID19 pregnant women. (September 2020) Authors: Cribiù, Fulvia Milena; Croci, Giorgio Alberto; Del Gobbo, Alessandro; Rizzuti, Tommaso; Iurlaro, Enrico; Tondo, Marta; Viscardi, Anna; Bosari, Silvano; Ferrero, Stefano Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 252(2020) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. Issue 5 (7th April 2015) Authors: Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, Paolo; Dorsman, Josephine; de Winter, Joh... Journal: Human mutation Issue: Volume 36:Issue 5(2015:May) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prenatal and postnatal findings in five cases of Fryns syndrome. (22nd July 2014) Authors: Peron, Angela; Bedeschi, Maria Francesca; Fabietti, Isabella; Baffero, Giulia Maria; Fogliani, Roberto; Ciralli, Fabrizio; Mosca, Fabio; Rizzuti, Tommaso; Leva, Ernesto; Lalatta, Faustina Journal: Prenatal diagnosis Issue: Volume 34:Number 12(2014:Dec.) Page Start: 1227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Prenatal diagnosis of Simpson–Golabi–Behmel syndrome. Issue 12 (9th September 2016) Authors: Magini, Pamela; Palombo, Flavia; Boito, Simona; Lanzoni, Giulia; Mongelli, Patrizia; Rizzuti, Tommaso; Baccarin, Marco; Pippucci, Tommaso; Seri, Marco; Lalatta, Faustina Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings. (19th July 2022) Authors: Ronzoni, Luisa; Boito, Simona; Meossi, Camilla; Cesaretti, Claudia; Rinaldi, Berardo; Agolini, Emanuele; Rizzuti, Tommaso; Pezzoli, Laura; Silipigni, Rosamaria; Novelli, Antonio; Iascone, Maria; Persico, Nicola; Natacci, Federica Journal: Prenatal diagnosis Issue: Volume 42:Number 12(2022) Page Start: 1493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome. (November 2018) Authors: Peron, Angela; Boito, Simona; Rizzuti, Tommaso; Borzani, Irene; Baccarin, Marco; Bedeschi, Maria; Lalatta, Faustina Journal: Genetics in medicine Issue: Volume 20:Number 11(2018) Page Start: 1483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗