1. The IL‐2RG R328X nonsense mutation allows partial STAT‐5 phosphorylation and defines a critical region involved in the leaky‐SCID phenotype. (19th January 2020) Authors: Arcas‐García, A.; Garcia‐Prat, M.; Magallón‐Lorenz, M.; Martín‐Nalda, A.; Drechsel, O.; Ossowski, S.; Alonso, L.; Rivière, J. G.; Soler‐Palacín, P.; Colobran, R.; Sayós, J.; Martínez‐Gallo, M.; Franco‐Jarava, C. Journal: Clinical and experimental immunology Issue: Volume 200:Number 1(2020) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. WES in nonprogressive congenital ataxia: Diagnostic yield and identification of novel loci. (June 2017) Authors: Macaya, A.; Drechsel, O.; Álvarez-Molinero, M.; Marcé-Grau, A.; Ferrer-Aparicio, S.; Gómez-Andrés, D.; Flotats-Bastardas, M.; Pons, M.R.; Raspall-Chaure, M.; Bezdan, D.; Bossio, M.; Munell, F.; Ossowski, S. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e219 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗