1. Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. (September 2014) Authors: Savarese, Marco; Spinelli, Elide; Gandolfo, Federico; Lemma, Valentina; Di Fruscio, Giuseppina; Padoan, Rita; Morescalchi, Francesco; D'Agostino, Massimo; Savoldi, Gianfranco; Semeraro, Francesco; Nigro, Vincenzo; Bonatti, Stefano Journal: Ophthalmic genetics Issue: Volume 35:Number 3(2014:Sep.) Page Start: 184 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P0057ADPKD: COMPLEX GENOTYPES MAY EXPLAIN SEVERE PHENOTYPE AND INTRAFAMILIAL PHENOTYPIC VARIABILITY. (6th June 2020) Authors: Izzi, Claudia; Delbarba, Elisa; Econimo, Laura; Dordoni, Chiara; Savoldi, Gianfranco; Mazza, Cinzia; Dallera, Nadia; Scolari, Francesco Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. P0074EXPANDING THE VARIABILITY OF THE ADPKD-GANAB CLINICAL PHENOTYPE: A NEW FAMILY OF ITALIAN ANCESTRY. (6th June 2020) Authors: Delbarba, Elisa; Econimo, Laura; Dordoni, Chiara; Martin, Eva; Gnutti, Barbara; Savoldi, Gianfranco; Mazza, Cinzia; Dallera, Nadia; Scolari, Francesco; Izzi, Claudia Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Prenatal findings in oral‐facial‐digital syndrome type VI: Report of three cases and literature review. (2nd July 2019) Authors: Dordoni, Chiara; Prefumo, Federico; Iascone, Maria; Pinelli, Lorenzo; Palumbo, Giovanni; Bondioni, Maria Pia; Savoldi, Gianfranco; Donzelli, Carla; Sartori, Enrico; Valente, Enza Maria; Izzi, Claudia Journal: Prenatal diagnosis Issue: Volume 39:Number 8(2019) Page Start: 652 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Issue 10 (15th August 2013) Authors: Savoldi, Gianfranco; Izzi, Claudia; Signorelli, Marino; Bondioni, Maria Pia; Romani, Chiara; Lanzi, Gaetana; Moratto, Daniele; Verdoni, Lucio; Pinotti, Moira; Prefumo, Federico; Superti‐Furga, Andrea; Pilotta, Alba Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?. Issue 10 (21st July 2019) Authors: Poli, Piercarlo; De Rose, Domenico Umberto; Timpano, Silviana; Savoldi, Gianfranco; Padoan, Rita Journal: Pediatric pulmonology Issue: Volume 54:Issue 10(2019) Page Start: 1578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. Issue 9 (1st September 2001) Authors: Clementi, Rita; zur Stadt, Udo; Savoldi, Gianfranco; Varotto, Stefania; Conter, Valentino; De Fusco, Carmela; Notarangelo, Luigi D; Schneider, Marion; Klersy, Catherine; Janka, Gritta; Danesino, Cesare; Aricò, Maurizio Journal: Journal of medical genetics Issue: Volume 38:Issue 9(2001) Page Start: 643 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗