1. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression. Issue 1 (28th October 2013) Authors: Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth; Yatsenko, Svetlana; Gregorio, Eleonora Di; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Pierre, Eleonore Eymard; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Vairo, Filippo... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 149 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression. Issue 8 (28th May 2013) Authors: Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth; Yatsenko, Svetlana; Gregorio, Eleonora Di; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Pierre, Eleonore Eymard; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Vairo, Filippo... Journal: Human mutation Issue: Volume 34:Issue 8(2013:Aug.) Page Start: 1160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome. Issue 7 (21st May 2013) Authors: Chapleau, Christopher A.; Lane, Jane; Kirwin, Susan M.; Schanen, Carolyn; Vinette, Kathy M.B.; Stubbolo, Danielle; MacLeod, Patrick; Percy, Alan K. Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Erratum to "Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome", Am J Med Genet Part A 161A:1638–1646. Issue 5 (May 2014) Authors: Chapleau, Christopher A.; Lane, Jane; Kirwin, Susan; Schanen, Carolyn; Vinette, Kathy M. B.; Stubbolo, Danielle; MacLeod, Patrick; Glaze, Daniel G.; Motil, Kathleen J.; Neul, Jeffrey L.; Skinner, Steven A.; Kaufmann, Walter E.; Percy, Alan K. Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗