1. Functional Genomics In A Cohort Of Fh Mutation Negative Patients. (August 2019) Authors: Rossi, N.; Graça, R.; Medeiros, A.M.; Abrantes, L.; Alves, A.C.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M. Journal: Atherosclerosis Issue: Volume 287(2019) Page Start: e93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Gene-gene interactions at GWAS loci modulate lipid plasma levels and cellular uptake of low-density lipoprotein. (December 2020) Authors: Zimon, M.; Trasta, A.; Huang, Y.; Liu, J.; Halavatyi, A.; Klaus, B.; Pepperkok, R.; Runz, H. Journal: Atherosclerosis Issue: Volume 315(2020) Page Start: e191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. High-throughput microscopy profiling of LDLR variants. (December 2020) Authors: Graça, R.; Zimon, M.; Alves, A.C.; Pepperkok, R.; Bourbon, M. Journal: Atherosclerosis Issue: Volume 315(2020) Page Start: e97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Improving familial dyslipidaemia diagnosis. (August 2018) Authors: Graça, R.; Rossi, N.; Alves, A.C.; Medeiros, A.; Zimon, M.; Raush, T.; Benes, V.; Pepperkok, R.; Bourbon, M. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: e99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Molecular communication across a membrane: spatial and temporal regulation of ER-to-Golgi transport. (June 2001) Authors: Stephens, D. J.; Pepperkok, R. Journal: Biochemical Society transactions Issue: Volume 29:Number 3(2001) Page Start: A77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. S274: A NOVEL SUBTYPE OF ANEMIA CAUSED BY MUTATIONS IN TFRC GENE. (23rd June 2022) Authors: Colucci, S.; Venturi, V.; Nicole, F.; Jové Solavera, D.; Zimon, M.; Richter-Pechanska, P.; Hernandez, G.; Unal, S.; Gumruk, F.; Diaz-Conradi, A.; Romero-Cortadellas, L.; Ferrer-Cortès, X.; Olivella, M.; Erlacher, M.; Niemeyer, C.; Wiesel, T.; Pepperkok, R.; Fleming, M. D.; Kulozik, A. E.; Sanchez... Journal: HemaSphere Issue: Volume 6(2022)Supplement 3 Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The importance to track variants in a genes causing recessive disorders within the family: A FH/Sitosterolemia clinical case. (August 2018) Authors: Graça, R.; Abrantes, L.; Rossi, N.; Alves, A.; Medeiros, A.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: e80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗