1. HP48 : Coexistence of unilateral and bilateral retinitis pigmentosa in the same family. (March 2022) Authors: Melgar Jiménez, B.; Zabalo San Juan, J.; Echeverría Guibert, T.; Cascón Fuertes, G.; Sánchez Aparicio, J.A.; Gener, B.; Fernández Bedoya, A.I.; Yurrebaso Santamaría, I. Journal: Clinical neurophysiology Issue: Volume 135(2022) Page Start: e12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. (26th January 2014) Authors: Baquero‐Montoya, C.; Gil‐Rodríguez, M.C.; Braunholz, D.; Teresa‐Rodrigo, M.E.; Obieglo, C.; Gener, B.; Schwarzmayr, T.; Strom, T.M.; Gómez‐Puertas, P.; Puisac, B.; Gillessen‐Kaesbach, G.; Musio, A.; Ramos, F.J.; Kaiser, F.J.; Pié, J. Journal: Clinical genetics Issue: Volume 86:Number 6(2014:Dec.) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Issue 6 (8th April 2016) Authors: Schönewolf‐Greulich, B.; Tejada, M.‐I.; Stephens, K.; Hadzsiev, K.; Gauthier, J.; Brøndum‐Nielsen, K.; Pfundt, R.; Ravn, K.; Maortua, H.; Gener, B.; Martínez‐Bouzas, C.; Piton, A.; Rouleau, G.; Clayton‐Smith, J.; Kleefstra, T.; Bisgaard, A.‐M.; Tümer, Z. Journal: Clinical genetics Issue: Volume 89:Issue 6(2016) Page Start: 733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗