1. Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. Issue 9 (1st September 2001) Authors: Kelly, Alison L; Lunt, Peter W; Rodrigues, Fernanda; Berry, P J; Flynn, Diana M; McKiernan, Patrick J; Kelly, Deirdre A; Mieli-Vergani, Giorgina; Cox, Timothy M Journal: Journal of medical genetics Issue: Volume 38:Issue 9(2001) Page Start: 599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinician-scientist MB/PhD training in the UK: a nationwide survey of medical school policy. Issue 12 (30th December 2015) Authors: Barnett-Vanes, Ashton; Ho, Guiyi; Cox, Timothy M Journal: BMJ open Issue: Volume 5:Issue 12(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial. Issue 9985 (13th June 2015) Authors: Cox, Timothy M; Drelichman, Guillermo; Cravo, Renata; Balwani, Manisha; Burrow, Thomas Andrew; Martins, Ana Maria; Lukina, Elena; Rosenbloom, Barry; Ross, Leorah; Angell, Jennifer; Puga, Ana Cristina Journal: Lancet Issue: Volume 385:Issue 9985(2015) Page Start: 2355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Emerging therapeutic targets for Gaucher disease. (March 2015) Authors: Vitner, Einat B; Vardi, Ayelet; Cox, Timothy M; Futerman, Anthony H Journal: Expert opinion on therapeutic targets Issue: Volume 19:Number 3(2015:Mar.) Page Start: 321 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease. Issue 22 (25th June 2021) Authors: Cachón-González, María B; Wang, Susan; Cox, Timothy M Journal: Human molecular genetics Issue: Volume 30:Issue 22(2021) Page Start: 2082 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Inhibition of UDP‐glucosylceramide synthase in mice prevents Gaucher disease‐associated B‐cell malignancy. Issue 1 (January 2015) Authors: Pavlova, Elena V; Archer, Joy; Z Wang, Susan; Dekker, Nick; Aerts, Johannes MFG; Karlsson, Stefan; Cox, Timothy M Journal: Journal of pathology Issue: Volume 235:Issue 1(2015) Page Start: 113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Orphan drug pricing may warrant a competition law investigation. (16th November 2010) Authors: Roos, Jonathan C P; Hyry, Hanna I; Cox, Timothy M Journal: BMJ Issue: Volume 341(2010) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Rare diseases and effective treatments: are we delivering?. Issue 9970 (28th February 2015) Authors: Luzzatto, Lucio; Hollak, Carla E M; Cox, Timothy M; Schieppati, Arrigo; Licht, Christoph; Kääriäinen, Helena; Merlini, Giampaolo; Schaefer, Franz; Simoens, Steven; Pani, Luca; Garattini, Silvio; Remuzzi, Giuseppe Journal: Lancet Issue: Volume 385:Issue 9970(2015) Page Start: 750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Reduced cerebral vascularization in experimental neuronopathic Gaucher disease. Issue 1 (14th December 2017) Authors: Smith, Nicholas JC; Fuller, Maria; Saville, Jennifer T; Cox, Timothy M Journal: Journal of pathology Issue: Volume 244:Issue 1(2018) Page Start: 120 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The lysosomal disease caused by mutant VPS33A. (10th April 2019) Authors: Pavlova, Elena V; Shatunov, Aleksey; Wartosch, Lena; Moskvina, Alena I; Nikolaeva, Lena E; Bright, Nicholas A; Tylee, Karen L; Church, Heather J; Ballabio, Andrea; Luzio, J Paul; Cox, Timothy M Journal: Human molecular genetics Issue: Volume 28:Number 15(2019) Page Start: 2514 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗