1. 69 Looking beyond no primary findings in the 100, 000 genomes project: can additional bioinformatics analysis reveal diagnoses?. (22nd November 2019) Authors: Hay, Eleanor; Morrogh, Deborah; Clement, Emma; Ashton, Emma; Buckton, Andrew; Lombard, Patrick; Faravelli, Francesca; Kumar, Ajith; Hurst, Jane; Chitty, Lyn; Scott, Richard Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A27 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia. Issue 4 (October 2019) Authors: Menzies, Lara; Cullup, Tom; Calder, Alistair; Wilson, Louise; Faravelli, Francesca Journal: Clinical dysmorphology Issue: Volume 28:Issue 4(2019:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?. Issue 6 (1st May 2013) Authors: Cinotti, Elisa; Ferrero, Giulio; Paparo, Francesco; Papadia, Marina; Faravelli, Francesca; Rongioletti, Franco; Traverso, Carlo; Di Maria, Emilio Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. Issue 3 (24th February 2012) Authors: Ghiorzo, Paola; Fornarini, Giuseppe; Sciallero, Stefania; Battistuzzi, Linda; Belli, Fiorenza; Bernard, Loris; Bonelli, Luigina; Borgonovo, Giacomo; Bruno, William; De Cian, Franco; DeCensi, Andrea; Filauro, Marco; Faravelli, Francesca; Gozza, Alberto; Gargiulo, Sara; Mariette, Frederique; Nasti,... Journal: Journal of medical genetics Issue: Volume 49:Issue 3(2012) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype123. Issue 2 (15th January 2013) Authors: Cordelli, Duccio Maria; Garavelli, Livia; Savasta, Salvatore; Guerra, Azzurra; Pellicciari, Alessandro; Giordano, Lucio; Bonetti, Silvia; Cecconi, Ilaria; Wischmeijer, Anita; Seri, Marco; Rosato, Simonetta; Gelmini, Chiara; Della Giustina, Elvio; Ferrari, Anna Rita; Zanotta, Nicoletta; Epifanio, ... Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Growth hormone, gender and face shape in prader–willi syndrome. Issue 10 (5th August 2013) Authors: de Souza, Mauren Abreu; McAllister, Catherine; Suttie, Michael; Perrotta, Concetta; Mattina, Teresa; Faravelli, Francesca; Forzano, Francesca; Holland, Anthony; Hammond, Peter Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. Issue 7 (9th April 2014) Authors: Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola;... Journal: Human mutation Issue: Volume 35:Issue 7(2014:Jul.) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis. Issue 6 (24th November 2022) Authors: McGlacken-Byrne, Sinéad M; Abdelmaksoud, Ashraf; Haini, Mohammad; Palm, Liina; Ashworth, Michael; Li, Juan; Wang, Wei; Wang, Xiumin; Wang, Jian; Callaghan, Bridget; Kinsler, Veronica A; Faravelli, Francesca; Dattani, Mehul T Journal: European journal of endocrinology Issue: Volume 187:Issue 6(2022) Page Start: K55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis. Issue 6 (24th November 2022) Authors: McGlacken-Byrne, Sinéad M; Abdelmaksoud, Ashraf; Haini, Mohammad; Palm, Liina; Ashworth, Michael; Li, Juan; Wang, Wei; Wang, Xiumin; Wang, Jian; Callaghan, Bridget; Kinsler, Veronica A.; Faravelli, Francesca; Dattani, Mehul T Journal: European journal of endocrinology Issue: Volume 187:Issue 6(2022) Page Start: K55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Issue 5 (11th April 2013) Authors: Handley, Mark T.; Morris‐Rosendahl, Deborah J.; Brown, Stephen; Macdonald, Fiona; Hardy, Carol; Bem, Danai; Carpanini, Sarah M.; Borck, Guntram; Martorell, Loreto; Izzi, Claudia; Faravelli, Francesca; Accorsi, Patrizia; Pinelli, Lorenzo; Basel‐Vanagaite, Lina; Peretz, Gabriela; Abdel‐Salam, Ghada... Journal: Human mutation Issue: Volume 34:Issue 5(2013:May) Page Start: 686 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗