1. Complex cranio-vertebral malformation: disruption sequence or iniencephaly?. Issue 3 (July 2018) Authors: Pollazzon, Marzia; Rosato, Simonetta; Ivanovski, Ivan; Gelmini, Chiara; Bertani, Gianna; Pascarella, Rosario; Napoli, Manuela; Garavelli, Livia; Unger, Sheila; Superti-Furga, Andrea Journal: Clinical dysmorphology Issue: Volume 27:Issue 3(2018:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG". Issue 1 (25th September 2021) Authors: Lugli, Licia; Pollazzon, Marzia; Bigoni, Stefania; Caraffi, Stefano Giuseppe; Ferlini, Alessandra; Ferri, Lorenzo; Morrone, Amelia; Calabrese, Olga; Iughetti, Lorenzo; Garavelli, Livia; Berardi, Alberto Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies. Issue 12 (11th October 2020) Authors: Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Ivanovski, Ivan; Maini, Ilenia; Pollazzon, Marzia; Rosato, Simonetta; Trimarchi, Gabriele; Lauriello, Anna; Marinelli, Maria; Nicoli, Davide; Baldo, Chiara; Laurie, Steven; Flores‐Daboub, Josue; Provenzano, Aldesia; Andreucci, Elena; Peluso, Francesca;... Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 2877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Noonan syndrome‐like disorder with loose anagen hair: A second case with neuroblastoma. (5th April 2015) Authors: Garavelli, Livia; Cordeddu, Viviana; Errico, Stefania; Bertolini, Patrizia; Street, Maria Elisabeth; Rosato, Simonetta; Pollazzon, Marzia; Wischmeijer, Anita; Ivanovski, Ivan; Daniele, Paola; Bacchini, Ermanno; Lombardi, Alfonsa Anna; Izzi, Giancarlo; Biasucci, Giacomo; Del Rossi, Carmine; Corrad... Journal: American journal of medical genetics Issue: Volume 167:Number 8(2015:Aug.) Page Start: 1902 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. Issue 2 (24th July 2022) Authors: Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P.; Filges, Isabel; Sparks, Teresa N.; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C.; Collardeau‐Frachon, Sophie; Dempsey, Esther A.; Dufke, Andreas; Duyzend, Michael... Other Names: Brower Amy guestEditor.; Chan Kee guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 2(2022) Page Start: 231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. RIN2 syndrome: Expanding the clinical phenotype. Issue 9 (8th June 2016) Authors: Rosato, Simonetta; Syx, Delfien; Ivanovski, Ivan; Pollazzon, Marzia; Santodirocco, Daniela; De Marco, Loredana; Beltrami, Marina; Callewaert, Bert; Garavelli, Livia; Malfait, Fransiska Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness. (August 2022) Authors: Mihalich, Alessandra; Cammarata, Gabriella; Tremolada, Gemma; Pollazzon, Marzia; Di Blasio, Anna Maria; Marzoli, Stefania Bianchi Journal: Experimental eye research Issue: Volume 221(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. Issue 5 (21st April 2018) Authors: Ivanovski, Ivan; Akbaroghli, Susan; Pollazzon, Marzia; Gelmini, Chiara; Caraffi, Stefano Giuseppe; Mansouri, Mahboubeh; Chavoshzadeh, Zahra; Rosato, Simonetta; Polizzi, Valeria; Gargano, Giancarlo; Alders, Marielle; Garavelli, Livia; Hennekam, Raoul C. Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗