1. 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) ↗
2. Admissions for acute cardiac inflammatory events or chest pain before and after the severe acute respiratory syndrome coronavirus 2 was in circulation. (25th February 2023) Authors: Sodero, Giorgio; Mariani, Francesco; Proli, Francesco; Lazzareschi, Ilaria; Bersani, Giulia; Delogu, Angelica Bibiana; De Rosa, Gabriella; Zampino, Giuseppe; Valentini, Piero; Buonsenso, Danilo Journal: Acta pædiatrica Issue: Volume 112:Number 5(2023) Page Start: 1038 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Issue 2 (24th December 2020) Authors: Amenta, Simona; Frangella, Silvia; Marangi, Giuseppe; Lattante, Serena; Ricciardi, Stefania; Doronzio, Paolo Niccolò; Orteschi, Daniela; Veredice, Chiara; Contaldo, Ilaria; Zampino, Giuseppe; Gentile, Mattia; Scarano, Emanuela; Graziano, Claudio; Zollino, Marcella Journal: Journal of medical genetics Issue: Volume 59:Issue 2(2022) Page Start: 189 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021) Authors: Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero‐Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Mich... Journal: Clinical genetics Issue: Volume 100:Issue 2(2021) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Ausgedehnte, unregelmäßige Mongolenflecken als Hinweis auf GM1‐Gangliosidose Typ 1. (March 2016) Authors: Bersani, Giulia; Guerriero, Cristina; Ricci, Francesco; Valentini, Piero; Zampino, Giuseppe; Lazzareschi, Ilaria; Antuzzi, Daniela; Rigante, Donato Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 14:Number 3(2016) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Behavioral Profile in RASopathies. Issue 4 (23rd January 2014) Authors: Alfieri, Paolo; Piccini, Giorgia; Caciolo, Cristina; Perrino, Francesca; Gambardella, Maria Luigia; Mallardi, Maria; Cesarini, Laura; Leoni, Chiara; Leone, Daniela; Fossati, Chiara; Selicorni, Angelo; Digilio, Maria Cristina; Tartaglia, Marco; Mercuri, Eugenio; Zampino, Giuseppe; Vicari, Stefano Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 934 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study. Issue 2 (15th December 2021) Authors: Leoni, Chiara; Bisanti, Cristian; Viscogliosi, Germana; Onesimo, Roberta; Massese, Miriam; Giorgio, Valentina; Corbo, Fabio; Acampora, Anna; Cipolla, Clelia; Flex, Elisabetta; Dell'Atti, Claudia; Rigante, Donato; Tartaglia, Marco; Zampino, Giuseppe Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 422 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients. Issue 1 (18th October 2022) Authors: Ghisleni, Cecilia; Parma, Barbara; Cianci, Paola; De Paoli, Anita; Pangallo, Elisabetta; Agovino, Teresa; Cereda, Anna; Bedeschi, Maria Francesca; Villa, Roberta; Fossati, Chiara; Modena, Piergiorgio; Giudici, Carolina; Morando, Carla; Memo, Luigi; Onesimo, Roberta; Zampino, Giuseppe; Salvatore, ... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome. Issue 2 (2nd December 2021) Authors: Leoni, Chiara; Viscogliosi, Germana; Onesimo, Roberta; Bisanti, Cristian; Massese, Miriam; Giorgio, Valentina; Corbo, Fabio; Tedesco, Marta; Acampora, Anna; Cipolla, Clelia; Dell'Atti, Claudia; Flex, Elisabetta; Gervasoni, Jacopo; Primiano, Aniello; Rigante, Donato; Tartaglia, Marco; Zampino, Giu... Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 414 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗