1. 74PCommon and rare DPYD variants are predictive for 5FU/capecitabine (5FU) toxicity: The MRC COIN and COIN-B trials. (23rd October 2018) Authors: Madi, A; Fisher, D; Maughan, T S; Colley, J P; Meade, A M; Maynard, J; Humphreys, V; Wasan, H; Adams, R A; Idziaszczyk, S; Harris, R; Kaplan, R S; Cheadle, J P Journal: Annals of oncology Issue: Volume 29(2018)Supplement 8 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. Issue 2 (February 1996) Authors: Upadhyaya, M; Roberts, S H; Maynard, J; Sorour, E; Thompson, P W; Vaughan, M; Wilkie, A O; Hughes, H E Journal: Journal of medical genetics Issue: Volume 33:Issue 2(1996) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. Issue 9 (September 1995) Authors: Upadhyaya, M; Maynard, J; Osborn, M; Huson, S M; Ponder, M; Ponder, B A; Harper, P S Journal: Journal of medical genetics Issue: Volume 32:Issue 9(1995) Page Start: 706 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Issue 3 (September 1994) Authors: Jardine, P E; Koch, M C; Lunt, P W; Maynard, J; Bathke, K D; Harper, P S; Upadhyaya, M Journal: Archives of disease in childhood Issue: Volume 71:Issue 3(1994) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. Issue 6 (June 1997) Authors: Upadhyaya, M; Maynard, J; Rogers, M T; Lunt, P W; Jardine, P; Ravine, D; Harper, P S Journal: Journal of medical genetics Issue: Volume 34:Issue 6(1997) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Issue 9 (30th May 2008) Authors: Dallosso, A R; Dolwani, S; Jones, N; Jones, S; Colley, J; Maynard, J; Idziaszczyk, S; Humphreys, V; Arnold, J; Donaldson, A; Eccles, D; Ellis, A; Evans, D G; Frayling, I M; Hes, F J; Houlston, R S; Maher, E R; Nielsen, M; Parry, S; Tyler, E Journal: Gut Issue: Volume 57:Issue 9(2008) Page Start: 1252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Issue 5 (1st May 2003) Authors: Gill, H; Cheadle, J P; Maynard, J; Fleming, N; Whatley, S; Cranston, T; Thompson, E M; Leonard, H; Davis, M; Christodoulou, J; Skjeldal, O; Hanefeld, F; Kerr, A; Tandy, A; Ravine, D; Clarke, A Journal: Journal of medical genetics Issue: Volume 40:Issue 5(2003) Page Start: 380 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. OC-055 The timed barium esophagram surface areacorrelates with symptom improvement better than column height following treatment in achalasia. (17th June 2017) Authors: Sanagapalli, S; Maynard, J; Plumb, A; Emmanuel, A; Duffy, M; Raeburn, A; Banks, M; Haidry, R; Lovat, L; Sweis, R Journal: Gut Issue: Volume 66(2017)Supplement 2 Page Start: A29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗