1. A chromosome X-wide association study in primary biliary cholangitis allowed the identification of 5 novel susceptibility loci. Issue 3 (October 2018) Authors: Asselta, R.; Paraboschi, E.; Carbone, M.; Gerussi, A.; Ronca, V.; Cristoferi, L.; Malinverno, F.; Duga, S.; Invernizzi, P. Journal: Digestive and liver disease Issue: Volume 50:Issue 3(2018)Supplement Page Start: e357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ‐module. (14th July 2015) Authors: Asselta, R.; Robusto, M.; Braidotti, P.; Peyvandi, F.; Nastasio, S.; D'Antiga, L.; Perisic, V. N.; Maggiore, G.; Caccia, S.; Duga, S. Journal: Journal of thrombosis and haemostasis Issue: Volume 13:Number 8(2015:Aug.) Page Start: 1459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification of a novel large deletion in a patient with severe factor V deficiency using an in‐house F5 MLPA assay. (30th November 2014) Authors: Nuzzo, F.; Paraboschi, E. M.; Straniero, L.; Pavlova, A.; Duga, S.; Castoldi, E. Journal: Haemophilia Issue: Volume 21:Number 1(2015:Jan.) Page Start: 140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification of a novel locus in a large pedigree with Parkinson's disease. (January 2018) Authors: Monfrini, E.; Malaguti, M.C.; Ottaviani, D.; Di Giacopo, R.; Straniero, L.; Duga, S.; Di Fonzo, A. Journal: Parkinsonism & related disorders Issue: Volume 46(2018)Supplement 2 Page Start: e72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Molecular investigation of 41 patients affected by coagulation factor XI deficiency. Issue 2 (27th November 2017) Authors: Rimoldi, V.; Paraboschi, E. M.; Menegatti, M.; Peyvandi, F.; Salomon, O.; Duga, S.; Asselta, R. Journal: Haemophilia Issue: Volume 24:Issue 2(2018) Page Start: e50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Shedding light on the X chromosome contribution to the genetic architecture of primary biliary cholangitis. (February 2019) Authors: Gerussi, A.; Asselta, R.; Paraboschi, E.; Carbone, M.; Ronca, V.; Cristoferi, L.; Malinverno, F.; Duga, S.; Invernizzi, P. Journal: Digestive and liver disease Issue: Volume 51(2019)Supplement 1 Page Start: e18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The largest monocentric study on sex distribution, penetrance, incidence, and association with dementia of GBA mutations in Parkinson's disease. (October 2020) Authors: Straniero, L.; Asselta, R.; Bonvegna, S.; Rimoldi, V.; Soldà, G.; Aureli, M.; Della Porta, M.; Lucca, U.; Di Fonzo, A.; Zecchinelli, A.; Pezzoli, G.; Cilia, R.; Duga, S. Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Supplement 1 Page Start: e28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The spectrum of factor XI deficiency in Italy. (24th September 2013) Authors: Castaman, G.; Giacomelli, S. H.; Caccia, S.; Riccardi, F.; Rossetti, G.; Dragani, A.; Giuffrida, A. C.; Biasoli, C.; Duga, S. Journal: Haemophilia Issue: Volume 20:Number 1(2014:Jan.) Page Start: 106 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗