1. Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. (1st February 2017) Authors: Gudmundsson, Sanna; Wilbe, Maria; Ekvall, Sara; Ameur, Adam; Cahill, Nicola; Alexandrov, Ludmil B.; Virtanen, Marie; Hellström Pigg, Maritta; Vahlquist, Anders; Törmä, Hans; Bondeson, Marie-Louise Journal: Human molecular genetics Issue: Volume 26:Number 6(2017:Mar. 15) Page Start: 1070 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Short telomere length is associated with NOTCH1/SF3B1/TP53 aberrations and poor outcome in newly diagnosed chronic lymphocytic leukemia patients. Issue 8 (20th June 2013) Authors: Mansouri, Larry; Grabowski, Pawel; Degerman, Sofie; Svenson, Ulrika; Gunnarsson, Rebeqa; Cahill, Nicola; Smedby, Karin Ekström; Geisler, Christian; Juliusson, Gunnar; Roos, Göran; Rosenquist, Richard Journal: American journal of hematology Issue: Volume 88:Issue 8(2013:Aug.) Page Start: 647 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗