1. A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early‐onset neurohypophyseal diabetes insipidus. (17th January 2012) Authors: Christensen, JH; Kvistgaard, H; Knudsen, J; Shaikh, G; Tolmie, J; Cooke, S; Pedersen, S; Corydon, TJ; Gregersen, N; Rittig, S Journal: Clinical genetics Issue: Volume 83:Number 1(2013:Jan.) Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early‐onset neurohypophyseal diabetes insipidus. (19th April 2013) Authors: Christensen, JH; Kvistgaard, H; Knudsen, J; Shaikh, G; Tolmie, J; Cooke, S; Pedersen, S; Corydon, TJ; Gregersen, N; Rittig, S Journal: Clinical genetics Issue: Volume 83:Number 1(2013:Jan.) Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. Issue 9 (12th April 2006) Authors: Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury-Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J Journal: Journal of medical genetics Issue: Volume 43:Issue 9(2006) Page Start: 729 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chromosome 22q11 microdeletions in tetralogy of Fallot. Issue 1 (January 1996) Authors: Trainer, A H; Morrison, N; Dunlop, A; Wilson, N; Tolmie, J Journal: Archives of disease in childhood Issue: Volume 74:Issue 1(1996) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis. Issue 2 (February 1987) Authors: Cooke, A; Tolmie, J; Darlington, W; Boyd, E; Thomson, R; Ferguson-Smith, M A Journal: Journal of medical genetics Issue: Volume 24:Issue 2(1987) Page Start: 88 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Congenital cutis laxa with retardation of growth and development. Issue 9 (September 1987) Authors: Patton, M A; Tolmie, J; Ruthnum, P; Bamforth, S; Baraitser, M; Pembrey, M Journal: Journal of medical genetics Issue: Volume 24:Issue 9(1987) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Investigation of global developmental delay. Issue 8 (21st July 2006) Authors: McDonald, L; Rennie, A; Tolmie, J; Galloway, P; McWilliam, R Journal: Archives of disease in childhood Issue: Volume 91:Issue 8(2006) Page Start: 701 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome. (18th September 2012) Authors: Banka, S; Howard, E; Bunstone, S; Chandler, KE; Kerr, B; Lachlan, K; McKee, S; Mehta, SG; Tavares, ALT; Tolmie, J; Donnai, D Journal: Clinical genetics Issue: Volume 83:Number 5(2013:May) Page Start: 467 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus. Issue 8 (August 1987) Authors: Robb, A; Forsyth, L; Tolmie, J Journal: Journal of medical genetics Issue: Volume 24:Issue 8(1987) Page Start: 502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pulmonary eosinophilia associated with carbamazepine. Issue 10 (October 1983) Authors: Tolmie, J; Steer, C R; Edmunds, A T Journal: Archives of disease in childhood Issue: Volume 58:Issue 10(1983) Page Start: 833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗