1. A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency. Issue 1 (December 2016) Authors: Giordano, Mara; Muratore, Valentina; Babu, Deepak; Meazza, Cristina; Bozzola, Mauro Journal: Molecular cytogenetics Issue: Volume 9:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report. (15th February 2017) Authors: Paganelli, Valeria; Giordano, Mara; Meazza, Cristina; Schena, Lucia; Bozzola, Mauro Journal: SAGE open medical case reports Issue: Volume 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ChemInform Abstract: Diels—Alder Reactions of 2‐Vinylindoles with Cyclic Dienophiles: Synthesis of [c]‐Annulated Tetrahydrocarbazoles. Issue 17 (4th April 2013) Authors: Pirovano, Valentina; Abbiati, Giorgio; Dell'Acqua, Monica; Facoetti, Diego; Giordano, Mara; Rossi, Elisabetta Journal: ChemInform Issue: Volume 44:Issue 17(2013) Page Start: no Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: A single centre cohort analysis. Issue 4 (April 2014) Authors: Musetti, Claudio; Quaglia, Marco; Mellone, Simona; Pagani, Alessia; Fusco, Ileana; Monzani, Alice; Giordano, Mara; Stratta, Piero Journal: Nephrology Issue: Volume 19:Issue 4(2014) Page Start: 202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination. Issue 124 (November 2021) Authors: Cugno, Massimo; Macor, Paolo; Giordano, Mara; Manfredi, Marcello; Griffini, Samantha; Grovetti, Elena; De Maso, Luca; Mellone, Simona; Valenti, Luca; Prati, Daniele; Bonato, Sara; Comi, Giacomo; Artoni, Andrea; Meroni, Pier Luigi; Peyvandi, Flora Journal: Journal of autoimmunity Issue: Issue 124(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis. Issue 1 (23rd November 2021) Authors: Fanelli, Antonella; Vannelli, Silvia; Babu, Deepak; Mellone, Simona; Cucci, Alessia; Monzani, Alice; Al Essa, Wael; Secco, Andrea; Follenzi, Antonia; Bellone, Simonetta; Prodam, Flavia; Giordano, Mara Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. (6th August 2015) Authors: De Rienzo, Francesca; Mellone, Simona; Bellone, Simonetta; Babu, Deepak; Fusco, Ileana; Prodam, Flavia; Petri, Antonella; Muniswamy, Ranjith; De Luca, Filippo; Salerno, Mariacarolina; Momigliano‐Richardi, Patricia; Bona, Gianni; Giordano, Mara Journal: Clinical endocrinology Issue: Volume 83:Number 6(2015:Dec.) Page Start: 849 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic causes of isolated and combined pituitary hormone deficiency. Issue 6 (December 2016) Authors: Giordano, Mara Journal: Best practice & research Issue: Volume 30:Issue 6(2016) Page Start: 679 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature. Issue 11 (29th May 2017) Authors: Dias, Christel; Giordano, Mara; Frechette, Rosalie; Bellone, Simonetta; Polychronakos, Constantin; Legault, Laurent; Deal, Cheri L; Goodyer, Cynthia Gates Journal: Journal of cellular and molecular medicine Issue: Volume 21:Issue 11(2017) Page Start: 2985 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity. (9th July 2020) Authors: Ricotti, Roberta; De Feudis, Marilisa; Peri, Caterina; Corazzari, Marco; Genoni, Giulia; Giordano, Mara; Mancioppi, Valentina; Agosti, Emanuela; Bellone, Simonetta; Prodam, Flavia Other Names: Pintaudi Basilio Academic Editor. Journal: International journal of endocrinology Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗