1. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Issue 2 (17th December 2014) Authors: Ankala, Arunkanth; da Silva, Cristina; Gualandi, Francesca; Ferlini, Alessandra; Bean, Lora J. H.; Collins, Christin; Tanner, Alice K.; Hegde, Madhuri R. Journal: Annals of neurology Issue: Volume 77:Issue 2(2015:Feb.) Page Start: 206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant. Issue 4 (14th July 2022) Authors: Parmeggiani, Giulia; Gualandi, Francesca; Limarzi, Marco; Ferlini, Alessandra; Brotto, Davide; Martini, Alessandro; Sensi, Alberto Journal: Clinical dysmorphology Issue: Volume 31:Issue 4(2022) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Family with γ-Thalassemia and High Hb A2 Levels. (3rd May 2016) Authors: Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Taddei Masieri, Marina; Dolcini, Bernadetta; Venturoli, Anna; Cappabianca, Maria P.; Ferlini, Alessandra; Ravani, Anna Journal: Hemoglobin Issue: Volume 40:Number 3(2016) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mutation of BEST1 gene in Best disease. Issue 3 (May 2021) Authors: Campa, Claudio; Parmeggiani, Francesco; Spena, Rossella; Ognibene, Davide; Passerini, Ilaria; Gualandi, Francesca Journal: European journal of ophthalmology Issue: Volume 31:Issue 3(2021) Page Start: NP93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies. Issue 7 (11th June 2014) Authors: Ayoglu, Burcu; Chaouch, Amina; Lochmüller, Hanns; Politano, Luisa; Bertini, Enrico; Spitali, Pietro; Hiller, Monika; Niks, Eric H; Gualandi, Francesca; Pontén, Fredrik; Bushby, Kate; Aartsma‐Rus, Annemieke; Schwartz, Elena; Le Priol, Yannick; Straub, Volker; Uhlén, Mathias; Cirak, Sebahattin; 't ... Journal: EMBO molecular medicine Issue: Volume 6:Issue 7(2014:Jul.) Page Start: 918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy. Issue 1 (20th April 2022) Authors: Graziosi, Maddalena; Ditaranto, Raffaello; Rapezzi, Claudio; Pasquale, Ferdinando; Lovato, Luigi; Leone, Ornella; Parisi, Vanda; Potena, Luciano; Ferrara, Valentina; Minnucci, Matteo; Caponetti, Angelo Giuseppe; Chiti, Chiara; Ferlini, Alessandra; Gualandi, Francesca; Rossi, Cesare; Berardini, Al... Journal: Open heart Issue: Volume 9:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results. (17th October 2011) Authors: Merlini, Luciano; Sabatelli, Patrizia; Armaroli, Annarita; Gnudi, Saverio; Angelin, Alessia; Grumati, Paolo; Michelini, Maria Elena; Franchella, Andrea; Gualandi, Francesca; Bertini, Enrico; Maraldi, Nadir Mario; Ferlini, Alessandra; Bonaldo, Paolo; Bernardi, Paolo Other Names: Yi Jing Academic Editor. Journal: Oxidative medicine and cellular longevity Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. DYT16/PRKRA founder mutation causes childhood-onset generalized dystonia in a family from Southern Italy. (January 2016) Authors: Quadri, Marialuisa; Olgiati, Simone; Sensi, Mariachiara; Gualandi, Francesca; Groppo, Elisabetta; Rispoli, Vittorio; Graafland, Josja; Breedveld, Guido J.; Fabbrini, Giovanni; Bonifati, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 22(2016)Supplement 2 Page Start: e77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. (February 2021) Authors: Selvatici, Rita; Rossi, Rachele; Fortunato, Fernanda; Trabanelli, Cecilia; Sifi, Yamina; Margutti, Alice; Neri, Marcella; Gualandi, Francesca; Szabò, Lena; Fekete, Balint; Angelova, Lyudmilla; Litvinenko, Ivan; Ivanov, Ivan; Vildan, Yurtsever; Iuhas, Oana Alexandra; Vintan, Mihaela; Burloiu, Carm... 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) ↗
10. Full donor chimerism after allogeneic hematopoietic stem cells transplant for myelofibrosis: The role of the conditioning regimen. Issue 2 (30th November 2020) Authors: Chiusolo, Patrizia; Bregante, Stefania; Giammarco, Sabrina; Lamparelli, Teresa; Casarino, Lucia; Dominietto, Alida; Raiola, Anna Maria; Metafuni, Elisabetta; Di Grazia, Carmen; Gualandi, Francesca; Sora, Federica; Laurenti, Luca; Sica, Simona; Barosi, Gianni; Guolo, Fabio; Rossi, Monica; Rossi, E... Journal: American journal of hematology Issue: Volume 96:Issue 2(2021) Page Start: 234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗