1. A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum. (3rd March 2015) Authors: Guida, Valentina; Sinibaldi, Lorenzo; Pagnoni, Mario; Bernardini, Laura; Loddo, Sara; Margiotti, Katia; Digilio, Maria Cristina; Fadda, Maria Teresa; Dallapiccola, Bruno; Iannetti, Giorgio; Alessandro, De Luca Journal: American journal of medical genetics Issue: Volume 167:Number 4(2015:Apr.) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. Issue 3 (27th December 2019) Authors: Giuffrida, Maria G.; Mastromoro, Gioia; Guida, Valentina; Truglio, Mauro; Fabbretti, Maria; Torres, Barbara; Mazza, Tommaso; De Luca, Alessandro; Roggini, Mario; Bernardini, Laura; Pizzuti, Antonio Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 508 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of left ventricular diastolic function by three‐dimensional transthoracic echocardiography. Issue 11 (28th June 2020) Authors: Badano, Luigi P.; Muraru, Denisa; Ciambellotti, Francesca; Caravita, Sergio; Guida, Valentina; Tomaselli, Michele; Parati, Gianfranco Journal: Echocardiography Issue: Volume 37:Issue 11(2020) Page Start: 1951 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects. Issue 3 (24th May 2021) Authors: Guida, Valentina; Sparascio, Francesca Piceci; Bernardini, Laura; Pancheri, Francesco; Melis, Daniela; Cocciadiferro, Dario; Pagnoni, Mario; Puzzo, Marianna; Goldoni, Marina; Barone, Chiara; Hozhabri, Hossein; Putotto, Carolina; Giuffrida, Maria Grazia; Briuglia, Silvana; Palumbo, Orazio; Bianca,... Journal: Clinical genetics Issue: Volume 100:Issue 3(2021) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 39, Issue 10. Issue 10 (19th September 2018) Authors: Ferese, Rosangela; Bonetti, Monica; Consoli, Federica; Guida, Valentina; Sarkozy, Anna; Lepri, Francesca Romana; Versacci, Paolo; Gambardella, Stefano; Calcagni, Giulio; Margiotti, Katia; Piceci Sparascio, Francesca; Hozhabri, Hossein; Mazza, Tommaso; Digilio, Maria Cristina; Dallapiccola, Bruno;... Journal: Human mutation Issue: Volume 39:Issue 10(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes. Issue 3 (17th June 2019) Authors: Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Kuechler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann‐Josef; Guida, Valentina; Krumbiegel, Mand... Journal: Clinical genetics Issue: Volume 96:Issue 3(2019) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Determinants of outcome in patients with chronic ischemic left ventricular dysfunction undergone percutaneous coronary interventions. Issue 1 (December 2015) Authors: Ammirati, Enrico; Guida, Valentina; Latib, Azeem; Moroni, Francesco; Arioli, Francesco; Scotti, Isabella; Rimoldi, Ornella; Colombo, Antonio; Camici, Paolo Journal: BMC cardiovascular disorders Issue: Volume 15:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Development and prognostic validation of partition values to grade right ventricular dysfunction severity using 3D echocardiography. (20th September 2019) Authors: Muraru, Denisa; Badano, Luigi P; Nagata, Yasufumi; Surkova, Elena; Nabeshima, Yosuke; Genovese, Davide; Otsuji, Yutaka; Guida, Valentina; Azzolina, Danila; Palermo, Chiara; Takeuchi, Masaaki Journal: European heart journal Issue: Volume 21:Number 1(2020) Page Start: 10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Issue 9 (20th November 2009) Authors: De Luca, Alessandro; Sarkozy, Anna; Consoli, Federica; Ferese, Rosangela; Guida, Valentina; Dentici, Maria Lisa; Mingarelli, Rita; Bellacchio, Emanuele; Tuo, Giulia; Limongelli, Giuseppe; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno Journal: Heart Issue: Volume 96:Issue 9(2010) Page Start: 673 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome. (26th August 2017) Authors: Palencia-Campos, Adrian; Ullah, Asmat; Nevado, Julian; Yıldırım, Ruken; Unal, Edip; Ciorraga, Maria; Barruz, Pilar; Chico, Lucia; Piceci-Sparascio, Francesca; Guida, Valentina; De Luca, Alessandro; Kayserili, Hülya; Ullah, Irfan; Burmeister, Margit; Lapunzina, Pablo; Ahmad, Wasim; Morales, Aixa V... Journal: Human molecular genetics Issue: Volume 26:Number 23(2017:Dec. 01) Page Start: 4556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗