1. A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes. Issue 2 (18th December 2018) Authors: Giorgio, Elisa; Sirchia, Fabio; Bosco, Martino; Sobreira, Nara Lygia M.; Grosso, Enrico; Brussino, Alessandro; Brusco, Alfredo Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. Issue 5 (November 2017) Authors: Giorgio, Elisa; Rubino, Elisa; Bruselles, Alessandro; Pizzi, Simone; Rainero, Innocenzo; Duca, Sergio; Sirchia, Fabio; Pasini, Barbara; Tartaglia, Marco; Brusco, Alfredo Journal: European journal of endocrinology Issue: Volume 177:Issue 5(2017) Page Start: K21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Beneficial effect of gabapentin in two children with Noonan syndrome and early‐onset neuropathic pain. Issue 8 (5th July 2020) Authors: Cortellazzo Wiel, Luisa; De Nardi, Laura; Magnolato, Andrea; Sirchia, Fabio; Bruno, Irene; Barbi, Egidio Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1990 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques. Issue 4 (21st July 2022) Authors: Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; ... Journal: Clinical genetics Issue: Volume 102:Issue 4(2022) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. First‐trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low‐risk population?. (28th August 2020) Authors: Fantasia, Ilaria; Stampalija, Tamara; Sirchia, Fabio; Della Pietà, Irene; Ottaviani Giammarco, Chiara; Guidolin, Francesca; Quadrifoglio, Mariachiara; Barresi, Valentina; Travan, Laura; Faletra, Flavio Journal: Prenatal diagnosis Issue: Volume 40:Number 12(2020) Page Start: 1563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia. Issue 8 (11th January 2021) Authors: Bottega, Roberta; Ravera, Silvia; Napolitano, Luisa M. R.; Chiappetta, Viviana; Zini, Nicoletta; Crescenzi, Barbara; Arniani, Silvia; Faleschini, Michela; Cortone, Giuseppe; Faletra, Flavio; Medagli, Barbara; Sirchia, Fabio; Moretti, Martina; de Lange, Job; Cappelli, Enrico; Mecucci, Cristina; On... Journal: Journal of cellular physiology Issue: Volume 236:Issue 8(2021) Page Start: 5664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mosaic Williams syndrome: A case report. Issue 1 (20th October 2022) Authors: Kalantari, Silvia; Biagio, Marta Di; Valente, Enza Maria; Rossi, Elena; Sirchia, Fabio Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. New Tools for Congenital Hyperinsulinism. (July 2021) Authors: Da Lozzo, Prisca; Risso, Francesco Maria; Schleef, Jürgen; Sirchia, Fabio; Sagredini, Raffaella; Bussani, Rossana; D'Adamo, Adamo Pio; Barbi, Egidio; Tornese, Gianluca Journal: Clinical pediatrics Issue: Volume 60:Number 8(2021) Page Start: 336 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis. (August 2022) Authors: Fiandrino, Giacomo; Arossa, Alessia; Ghirardello, Stefano; Kalantari, Silvia; Rossi, Chiara; Bonasoni, Maria Paola; Cesari, Stefania; Rizzuti, Tommaso; Giorgio, Elisa; Bassanese, Francesco; Scatigno, Annachiara Licia; Meroni, Anna; Melito, Chiara; Feltri, Monica; Longo, Stefania; Figar, Tiziana A... Journal: Placenta Issue: Volume 126(2022) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis. Issue 6 (29th March 2022) Authors: Persico, Ilaria; Feresin, Agnese; Faleschini, Michela; Fontana, Giorgia; Sirchia, Fabio; Faletra, Flavio; La Bianca, Martina; Suergiu, Sarah; Morgutti, Marcello; Maschio, Massimo; D'Adamo, Adamo Pio; Raraigh, Karen S.; Savoia, Anna; Bottega, Roberta Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 6(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗