1. A new MRI severity score to predict long-term adverse neurologic outcomes in children with congenital Cytomegalovirus infection. (19th March 2021) Authors: Lucignani, Giulia; Rossi Espagnet, Maria Camilla; Napolitano, Antonio; Figà Talamanca, Lorenzo; Calò Carducci, Francesca Ippolita; Auriti, Cinzia; Longo, Daniela Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 34:Number 6(2021) Page Start: 859 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Issue 6 (25th March 2021) Authors: Torraco, Alessandra; Nasca, Alessia; Verrigni, Daniela; Pennisi, Alessandra; Zaki, Maha S.; Olivieri, Giorgia; Assouline, Zahra; Martinelli, Diego; Maroofian, Reza; Rizza, Teresa; Di Nottia, Michela; Invernizzi, Federica; Lamantea, Eleonora; Longo, Daniela; Houlden, Henry; Prokisch, Holger; Rötig... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Issue 6 (11th May 2021) Authors: Cappuccio, Gerarda; Ceccatelli Berti, Camilla; Baruffini, Enrico; Sullivan, Jennifer; Shashi, Vandana; Jewett, Tamison; Stamper, Tara; Maitz, Silvia; Canonico, Francesco; Revah‐Politi, Anya; Kupchik, Gabriel S.; Anyane‐Yeboa, Kwame; Aggarwal, Vimla; Benneche, Andreas; Bratland, Eirik; Berland, Si... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mild hypothermia and hemorrhagic lesions in neonates with hypoxic-ischemic encephalopathy: experience in an outborn center. (17th June 2016) Authors: Savarese, Immacolata; Balestri, Martina; Piersigilli, Fiammetta; Giliberti, Paola; Campi, Francesca; Rechichi, Jole; Mondì, Vito; Gesualdo, Francesco; Longo, Daniela; Cilio, Maria Roberta; Dotta, Andrea Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 29:Number 12(2016) Page Start: 1963 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy. (25th June 2020) Authors: Lenge, Matteo; Marini, Carla; Canale, Edoardo; Napolitano, Antonio; De Masi, Salvatore; Trivisano, Marina; Mei, Davide; Longo, Daniela; Rossi Espagnet, Maria Camilla; Lucenteforte, Ersilia; Barba, Carmen; Specchio, Nicola; Guerrini, Renzo Journal: Cerebral cortex Issue: Volume 30:Number 11(2020) Page Start: 6039 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An unusual presentation of tuberous sclerosis. Issue 3 (12th January 2013) Authors: Macchiaiolo, Marina; Buonuomo, Paola Sabrina; Longo, Daniela; Valentini, Diletta; Bartuli, Andrea Journal: Archives of disease in childhood Issue: Volume 98:Issue 3(2013) Page Start: 214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image. Issue 11 (6th December 2020) Authors: Smedile, Francesco; Giordano, Giovanni; Pariante, Rosanna; Padua, Mariangela; Bagolan, Pietro; Longo, Daniela; Sgrò, Stefania; Picardo, Sergio Journal: Paediatric anaesthesia Issue: Volume 30:Issue 11(2020:Nov.) Page Start: iii Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Management of accidental lumbar epidural catheter breakage in a 5‐month‐old infant. Issue 11 (6th October 2020) Authors: Smedile, Francesco; Giordano, Giovanni; Pariante, Rosanna; Padua, Mariangela; Bagolan, Pietro; Longo, Daniela; Sgrò, Stefania; Picardo, Sergio Journal: Paediatric anaesthesia Issue: Volume 30:Issue 11(2020:Nov.) Page Start: 1278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome. Issue 11 (18th September 2020) Authors: Macchiaiolo, Marina; Panfili, Filippo Maria; Gonfiantini, Michaela Veronika; Mastrogiorgio, Gerarda; Buonuomo, Paola Sabrina; Gaspari, Stefania; Longo, Daniela; Zollino, Marcella; Bartuli, Andrea Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2746 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl. Issue 10 (3rd August 2020) Authors: Rossi‐Espagnet, Maria C.; Dentici, Maria L.; Pasquini, Luca; Carducci, Chiara; Lucignani, Martina; Longo, Daniela; Agolini, Emanuele; Novelli, Antonio; Gonfiantini, Michaela V.; Digilio, Maria C.; Napolitano, Antonio; Bartuli, Andrea Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2372 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗