1. An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. Issue 6 (1st June 2003) Authors: Soragna, D; Tupler, R; Ratti, M T; Montalbetti, L; Papi, L; Sestini, R Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 74:Issue 6(2003) Page Start: 825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. Issue 7 (1st July 2005) Authors: Baser, M E; Kuramoto, L; Woods, R; Joe, H; Friedman, J M; Wallace, A J; Ramsden, R T; Olschwang, S; Bijlsma, E; Kalamarides, M; Papi, L; Kato, R; Carroll, J; Lázaro, C; Joncourt, F; Parry, D M; Rouleau, G A; Evans, D G R Journal: Journal of medical genetics Issue: Volume 42:Issue 7(2005) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. Issue 11 (November 1993) Authors: Rossi, E; Floridia, G; Casali, M; Danesino, C; Chiumello, G; Bernardi, F; Magnani, I; Papi, L; Mura, M; Zuffardi, O Journal: Journal of medical genetics Issue: Volume 30:Issue 11(1993) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗