1. A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. Issue 5 (November 2017) Authors: Giorgio, Elisa; Rubino, Elisa; Bruselles, Alessandro; Pizzi, Simone; Rainero, Innocenzo; Duca, Sergio; Sirchia, Fabio; Pasini, Barbara; Tartaglia, Marco; Brusco, Alfredo Journal: European journal of endocrinology Issue: Volume 177:Issue 5(2017) Page Start: K21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015) Authors: Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1080 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes. Issue 10 (23rd June 2021) Authors: Leoni, Chiara; Tedesco, Marta; Radio, Francesca Clementina; Chillemi, Giovanni; Leone, Antonio; Bruselles, Alessandro; Ciolfi, Andrea; Stellacci, Emilia; Pantaleoni, Francesca; Butera, Gianfranco; Rigante, Donato; Onesimo, Roberta; Tartaglia, Marco; Zampino, Giuseppe Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cancer Stem Cell-Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy Resistance. (8th March 2016) Authors: De Angelis, Maria Laura; Zeuner, Ann; Policicchio, Eleonora; Russo, Giorgio; Bruselles, Alessandro; Signore, Michele; Vitale, Sara; De Luca, Gabriele; Pilozzi, Emanuela; Boe, Alessandra; Stassi, Giorgio; Ricci-Vitiani, Lucia; Amoreo, Carla Azzurra; Pagliuca, Alfredo; Francescangeli, Federica; Tar... Journal: Stem cells translational medicine Issue: Volume 5:Number 4(2016) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cancer Stem Cell‐Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy Resistance. (8th March 2016) Authors: De Angelis, Maria Laura; Zeuner, Ann; Policicchio, Eleonora; Russo, Giorgio; Bruselles, Alessandro; Signore, Michele; Vitale, Sara; De Luca, Gabriele; Pilozzi, Emanuela; Boe, Alessandra; Stassi, Giorgio; Ricci-Vitiani, Lucia; Amoreo, Carla Azzurra; Pagliuca, Alfredo; Francescangeli, Federica; Tar... Journal: Stem cells translational medicine Issue: Volume 5:Number 4(2016) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A. Issue 9 (20th June 2016) Authors: Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image, Volume 170A, Number 7, July 2016. Issue 7 (17th June 2016) Authors: Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, M... Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. (May 2017) Authors: Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoro... Journal: European journal of paediatric neurology Issue: Volume 21:Number 3(2017:May) Page Start: 475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review. Issue 6 (6th March 2021) Authors: Pavinato, Lisa; Trajkova, Slavica; Grosso, Enrico; Giorgio, Elisa; Bruselles, Alessandro; Radio, Francesca Clementina; Pippucci, Tommaso; Dimartino, Paola; Tartaglia, Marco; Petlichkovski, Aleksandar; De Rubeis, Silvia; Buxbaum, Joseph; Ferrero, Giovanni Battista; Keller, Roberto; Brusco, Alfredo Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the molecular diversity and phenotypic spectrum of glycerol 3‐phosphate dehydrogenase 1 deficiency. Issue 5 (1st July 2016) Authors: Dionisi‐Vici, Carlo; Shteyer, Eyal; Niceta, Marcello; Rizzo, Cristiano; Pode‐Shakked, Ben; Chillemi, Giovanni; Bruselles, Alessandro; Semeraro, Michela; Barel, Ortal; Eyal, Eran; Kol, Nitzan; Haberman, Yael; Lahad, Avishai; Diomedi‐Camassei, Francesca; Marek‐Yagel, Dina; Rechavi, Gideon; Tartagli... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗