1. A new case series of Crisponi syndrome in a Turkish family and review of the literature. Issue 2 (April 2017) Authors: Bayraktar-Tanyeri, Bilge; Hepokur, Mervenur; Bayraktar, Suleyman; Persico, Ivana; Crisponi, Laura Journal: Clinical dysmorphology Issue: Volume 26:Issue 2(2017:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP. Issue 4 (8th February 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. Issue 1 (16th September 2019) Authors: Buers, Insa; Persico, Ivana; Schöning, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi, Puneet Kaur; Utine, Gulen Eda; Bayraktar‐Tanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura Journal: Clinical genetics Issue: Volume 97:Issue 1(2020) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc... Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion. Issue 3 (July 2020) Authors: Schierz, Ingrid Anne Mandy; Serra, Gregorio; Antona, Vincenzo; Persico, Ivana; Corsello, Giovanni; Piro, Ettore Journal: Clinical dysmorphology Issue: Volume 29:Issue 3(2020:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Molecular Characterization of β-Thalassemia Mutations in Central Vietnam. (4th March 2017) Authors: Doro, Maria G.; Casu, Giuseppina; Frogheri, Laura; Persico, Ivana; Triet, Le Phan Minh; Hoa, Phan Thi Thuy; Hoang, Nguyen Huy; Pirastru, Monica; Mereu, Paolo; Cucca, Francesco; Masala, Bruno Journal: Hemoglobin Issue: Volume 41:Number 2(2017) Page Start: 96 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗