1. 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) ↗
2. Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. Issue 1 (21st November 2017) Authors: Yilmaz, Rüstem; Szakszon, Katalin; Altmann, Anna; Altunoglu, Umut; Senturk, Leyli; McGuire, Marianne; Calabrese, Olga; Madan‐Khetarpal, Suneeta; Basel‐Vanagaite, Lina; Borck, Guntram Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study). (30th November 2022) Authors: Grati, Francesca Romana; Bestetti, Ilaria; De Siero, Daria; Malvestiti, Francesca; Villa, Nicoletta; Sala, Elena; Crosti, Francesca; Parisi, Valentina; Nardone, Anna Maria; Di Giacomo, Gianluca; Pettinari, Antonella; Tortora, Giada; Montaldi, Annamaria; Calò, Annapaola; Saccilotto, Donatella; Zan... Journal: Prenatal diagnosis Issue: Volume 42:Number 13(2022) Page Start: 1575 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗