1. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. Issue 1 (July 2015) Authors: Benito-Vicente, A.; Etxebarria, A.; Stef, M.; Ostolaza, H.; Palacios, L.; Martín, C. Journal: Atherosclerosis Issue: Volume 241:Issue 1(2015) Page Start: e119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. Issue 2 (February 2015) Authors: Etxebarria, A.; Benito-Vicente, A.; Stef, M.; Ostolaza, H.; Palacios, L.; Martin, C. Journal: Atherosclerosis Issue: Volume 238:Issue 2(2015) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characteristics of homozygous familial hypercholesterolemia in Spain. (September 2016) Authors: Sánchez-Hernández, R.M.; Stef, M.; Perez-Calahorra, S.; Almagro, F.; Sáenz-Aranzubía, P.; Plana, N.; Real, J.T.; Blanco-Vaca, F.; Ascaso, J.F.; Civeira, F.; Pocovi, M. Journal: Atherosclerosis Issue: Volume 252(2016) Page Start: e203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional characterization and classification of frequent variants located in the ldlr beta-propeller. (August 2018) Authors: Galicia García, U.; Benito-vicente, A.; Uribe, K.B.; Jebari, S.; Palacios, L.; Stef, M.; Ostolaza, H.; Martin, C. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: e166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic diagnosis of familial hypercholesterolaemia by targeted next‐generation sequencing. (21st May 2014) Authors: Maglio, C.; Mancina, R. M.; Motta, B. M.; Stef, M.; Pirazzi, C.; Palacios, L.; Askaryar, N.; Borén, J.; Wiklund, O.; Romeo, S. Journal: Journal of internal medicine Issue: Volume 276:Number 4(2014:Oct.) Page Start: 396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic diagnosis of familial hypercholesterolaemia by targeted next‐generation sequencing. (21st May 2014) Authors: Maglio, C.; Mancina, R. M.; Motta, B. M.; Stef, M.; Pirazzi, C.; Palacios, L.; Askaryar, N.; Borén, J.; Wiklund, O.; Romeo, S. Journal: Journal of internal medicine Issue: Volume 276:Number 4(2014:Oct.) Page Start: 396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. P.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro. Issue 1 (December 2018) Authors: Benito-Vicente, A.; Siddiqi, H.; Uribe, K.; Jebari, S.; Galicia-Garcia, U.; Larrea-Sebal, A.; Stef, M.; Ostolaza, H.; Palacios, L.; Martin, C. Journal: Scientific reports Issue: Volume 8:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗