1. Cover Image, Volume 39, Issue 10. Issue 10 (19th September 2018) Authors: Ferese, Rosangela; Bonetti, Monica; Consoli, Federica; Guida, Valentina; Sarkozy, Anna; Lepri, Francesca Romana; Versacci, Paolo; Gambardella, Stefano; Calcagni, Giulio; Margiotti, Katia; Piceci Sparascio, Francesca; Hozhabri, Hossein; Mazza, Tommaso; Digilio, Maria Cristina; Dallapiccola, Bruno;... Journal: Human mutation Issue: Volume 39:Issue 10(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4). Issue 2 (6th May 2022) Authors: Ferese, Rosangela; Scala, Simona; Suppa, Antonio; Campopiano, Rosa; Asci, Francesco; Chiaravalloti, Maria Antonietta; Zampogna, Alessandro; D'Alessio, Carmelo; Fittipaldi, Filomena; Buttari, Fabio; Di Pardo, Alba; Giardina, Emiliano; Zampatti, Stefania; Fornai, Francesco; Novelli, Giuseppe; Fanel... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease". (9th September 2018) Authors: Gambardella, Stefano; Ferese, Rosangela; Scala, Simona; Carboni, Stefania; Biagioni, Francesca; Giardina, Emiliano; Zampatti, Stefania; Modugno, Nicola; Fabbiano, Francesco; Fornai, Francesco; Centonze, Diego; Ruggieri, Stefano Journal: Parkinson's disease Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Issue 9 (20th November 2009) Authors: De Luca, Alessandro; Sarkozy, Anna; Consoli, Federica; Ferese, Rosangela; Guida, Valentina; Dentici, Maria Lisa; Mingarelli, Rita; Bellacchio, Emanuele; Tuo, Giulia; Limongelli, Giuseppe; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno Journal: Heart Issue: Volume 96:Issue 9(2010) Page Start: 673 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings. (9th November 2015) Authors: Ferese, Rosangela; Modugno, Nicola; Campopiano, Rosa; Santilli, Marco; Zampatti, Stefania; Giardina, Emiliano; Nardone, Annamaria; Postorivo, Diana; Fornai, Francesco; Novelli, Giuseppe; Romoli, Edoardo; Ruggieri, Stefano; Gambardella, Stefano Other Names: Teive Hélio Academic Editor. Journal: Parkinson's disease Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic regulation of IL-8 influences disease presentation of multiple sclerosis. (April 2023) Authors: Dolcetti, Ettore; Bruno, Antonio; Azzolini, Federica; Gilio, Luana; Pavone, Luigi; Iezzi, Ennio; Galifi, Giovanni; Gambardella, Stefano; Ferese, Rosangela; Buttari, Fabio; De Vito, Francesca; Colantuono, Paola; Furlan, Roberto; Finardi, Annamaria; Musella, Alessandra; Mandolesi, Georgia; Centonze... Journal: Multiple sclerosis Issue: Volume 29:Number 4/5(2023) Page Start: 512 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect. Issue 10 (30th July 2018) Authors: Ferese, Rosangela; Bonetti, Monica; Consoli, Federica; Guida, Valentina; Sarkozy, Anna; Lepri, Francesca Romana; Versacci, Paolo; Gambardella, Stefano; Calcagni, Giulio; Margiotti, Katia; Piceci Sparascio, Francesca; Hozhabri, Hossein; Mazza, Tommaso; Digilio, Maria Cristina; Dallapiccola, Bruno;... Journal: Human mutation Issue: Volume 39:Issue 10(2018) Page Start: 1428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot. Issue 12 (16th August 2013) Authors: Digilio, Maria Cristina; Luca, Alessandro De; Lepri, Francesca; Guida, Valentina; Ferese, Rosangela; Dentici, Maria Lisa; Angioni, Adriano; Marino, Bruno; Dallapiccola, Bruno Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot. Issue 12 (16th August 2013) Authors: Digilio, Maria Cristina; Luca, Alessandro De; Lepri, Francesca; Guida, Valentina; Ferese, Rosangela; Dentici, Maria Lisa; Angioni, Adriano; Marino, Bruno; Dallapiccola, Bruno Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease. (21st June 2018) Authors: Gambardella, Stefano; Ferese, Rosangela; Scala, Simona; Carboni, Stefania; Biagioni, Francesca; Emiliano, Giardina; Zampatti, Stefania; Modugno, Nicola; Fabbiano, Francesco; Fornai, Francesco; Centonze, Diego; Ruggieri, Stefano Other Names: Aasly Jan Academic Editor. Journal: Parkinson's disease Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗