1. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion. Issue 5 (7th September 2022) Authors: Poyatos‐García, Javier; Martí, Pilar; Liquori, Alessandro; Muelas, Nuria; Pitarch, Inmaculada; Martinez‐Dolz, Luis; Rodríguez, Benjamin; Gonzalez‐Quereda, Lidia; Damiá, Maria; Aller, Elena; Selva‐Gimenez, Marta; Vilchez, Roger; Diaz‐Manera, Jordi; Alonso‐Pérez, Jorge; Barcena, José Eulalio; Jaure... Journal: Annals of neurology Issue: Volume 92:Issue 5(2022) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease. Issue 1 (4th December 2020) Authors: Gonzalez‐Quereda, Lidia; Pagola, Inmaculada; Fuentes Prior, Pablo; Bernal, Sara; Rodriguez, Maria Jose; Torné, Laura; Salgado Garrido, Josefa; Gallano, Pia; Jericó, Ivonne Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease. Issue 1 (4th December 2020) Authors: Gonzalez‐Quereda, Lidia; Pagola, Inmaculada; Fuentes Prior, Pablo; Bernal, Sara; Rodriguez, Maria Jose; Torné, Laura; Salgado Garrido, Josefa; Gallano, Pia; Jericó, Ivonne Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. Issue 4 (5th October 2019) Authors: Bogliolo, Massimo; Pujol, Roser; Aza-Carmona, Miriam; Muñoz-Subirana, Núria; Rodriguez-Santiago, Benjamin; Casado, José Antonio; Rio, Paula; Bauser, Christopher; Reina-Castillón, Judith; Lopez-Sanchez, Marcos; Gonzalez-Quereda, Lidia; Gallano, Pia; Catalá, Albert; Ruiz-Llobet, Ana; Badell, Isabel... Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗