1. 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) ↗
2. Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy. Issue 8 (6th May 2019) Authors: Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; Di Giosaffatte, Niccolò; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tarta... Journal: Human mutation Issue: Volume 40:Issue 8(2019) Page Start: 1046 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB. Issue 3 (28th December 2021) Authors: Pascolini, Giulia; Passarelli, Chiara; Lipari, Martina; Chandramouli, Balasubramanian; Chillemi, Giovanni; Di Giosaffatte, Niccolo'; Novelli, Antonio; Grammatico, Paola Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Issue 16 (26th March 2022) Authors: Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, ... Journal: Human molecular genetics Issue: Volume 31:Issue 16(2022) Page Start: 2766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genome assembly and transcriptome resource for river buffalo, Bubalus bubalis (2n = 50). Issue 10 (1st September 2017) Authors: Williams, John L; Iamartino, Daniela; Pruitt, Kim D; Sonstegard, Tad; Smith, Timothy P L; Low, Wai Yee; Biagini, Tommaso; Bomba, Lorenzo; Capomaccio, Stefano; Castiglioni, Bianca; Coletta, Angelo; Corrado, Federica; Ferré, Fabrizio; Iannuzzi, Leopoldo; Lawley, Cynthia; Macciotta, Nicolò; McClure,... Journal: GigaScience Issue: Volume 6:Issue 10(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. HECT-Type E3 Ubiquitin Ligases in Cancer. Issue 12 (December 2019) Authors: Bernassola, Francesca; Chillemi, Giovanni; Melino, Gerry Journal: Trends in biochemical sciences Issue: Volume 44:Issue 12(2019) Page Start: 1057 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species. Issue 4 (11th September 2021) Authors: Carpentieri, Giovanna; Leoni, Chiara; Pietraforte, Donatella; Cecchetti, Serena; Iorio, Egidio; Belardo, Antonio; Pietrucci, Daniele; Di Nottia, Michela; Pajalunga, Deborah; Megiorni, Francesca; Mercurio, Laura; Tatti, Massimo; Camero, Simona; Marchese, Cinzia; Rizza, Teresa; Tirelli, Valentina; ... Journal: Human molecular genetics Issue: Volume 31:Issue 4(2022) Page Start: 561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. In vitro evaluation of immunomodulatory activities of goat milk Extracellular Vesicles (mEVs) in a model of gut inflammation. (20th December 2022) Authors: Mecocci, Samanta; De Paolis, Livia; Fruscione, Floriana; Pietrucci, Daniele; De Ciucis, Chiara Grazia; Giudici, Silvia Dei; Franzoni, Giulia; Chillemi, Giovanni; Cappelli, Katia; Razzuoli, Elisabetta Journal: Research in veterinary science Issue: Volume 152(2022) Page Start: 546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence. Issue 4 (April 2022) Authors: Nurchis, Mario Cesare; Riccardi, Maria Teresa; Radio, Francesca Clementina; Chillemi, Giovanni; Bertini, Enrico Silvio; Tartaglia, Marco; Cicchetti, Americo; Dallapiccola, Bruno; Damiani, Gianfranco Journal: Health policy Issue: Volume 126:Issue 4(2022) Page Start: 337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗