1. Acute Hemorrhagic Edema of Infancy With Associated Hemorrhagic Lacrimation. Issue 10 (October 2020) Authors: Milani, Gregorio P.; Bianchetti, Mario G.; Ferrarini, Alessandra; Rinoldi, Pietro O.; Lava, Sebastiano A. G. Journal: Pediatric emergency care Issue: Volume 36:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chromosomal microarray among children with intellectual disability: a useful diagnostic tool for the clinical geneticist. (23rd November 2013) Authors: Capobianco, Stephanie; Lava, Sebastiano AG; Bianchetti, Mario G; Martinet, Danielle; Belfiore, Marco; Ramelli, Gian Paolo; Ferrarini, Alessandra Journal: Developmental medicine & child neurology Issue: Volume 56:Number 3(2014:Mar.) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Issue 11 (2nd October 2013) Authors: Gervasini, Cristina; Russo, Silvia; Cereda, Anna; Parenti, Ilaria; Masciadri, Maura; Azzollini, Jacopo; Melis, Daniela; Aravena, Teresa; Doray, Bérénice; Ferrarini, Alessandra; Garavelli, Livia; Selicorni, Angelo; Larizza, Lidia Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Issue 10 (20th August 2020) Authors: Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Lygia de Macena Sobreira, Nara; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; W... Journal: Journal of medical genetics Issue: Volume 58:Issue 10(2021) Page Start: 712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial Henoch-Schönlein Syndrome. Issue 2 (March 2016) Authors: Ostini, Alessandro; Simonetti, Giacomo D.; Pellanda, Giorgia; Bianchetti, Mario G.; Ferrarini, Alessandra; Milani, Gregorio P. Journal: Journal of clinical rheumatology Issue: Volume 22:Issue 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders. (May 2015) Authors: Pellanda, Giorgia; Lava, Sebastiano A.G.; Ferrarini, Alessandra; Ramelli, Gian Paolo Journal: European journal of paediatric neurology Issue: Volume 19:Number 3(2015:May) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Immune deposits in skin vessels of patients with acute hemorrhagic edema of young children: A systematic literature review. Issue 1 (22nd November 2019) Authors: Pellanda, Giorgia; Lava, Sebastiano A. G.; Milani, Gregorio P.; Bianchetti, Mario G.; Ferrarini, Alessandra; Vanoni, Federica Journal: Pediatric dermatology Issue: Volume 37:Issue 1(2020) Page Start: 120 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?. Issue 3 (9th January 2021) Authors: Lopergolo, Diego; Privitera, Flavia; Castello, Giuseppe; Lo Rizzo, Caterina; Mencarelli, Maria Antonietta; Pinto, Anna Maria; Ariani, Francesca; Currò, Aurora; Lamacchia, Vittoria; Canitano, Roberto; Vaghi, Elisabetta; Ferrarini, Alessandra; Baltodano, Gerardo Mejia; Lederer, Damien; Van Malderge... Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy. Issue 1 (January 2020) Authors: Bronz, Gabriel; Leoni-Foglia, Corinna; Lava, Sebastiano G.; Simonetti, Giacomo D.; Ferrarini, Alessandra Journal: Clinical dysmorphology Issue: Volume 29:Issue 1(2020:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Potocki–shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. Issue 2 (13th December 2013) Authors: Ferrarini, Alessandra; Gaillard, Muriel; Guerry, Frederic; Ramelli, Gianpaolo; Heidi, Fodstad; Keddache, Caroline Verley; Wieland, Ilse; Beckmann, Jacques S.; Jaquemont, Sébastien; Martinet, Danielle Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗