1. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study. (26th April 2013) Authors: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodríguez‐Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; Cueto‐González, AM; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R Journal: Clinical genetics Issue: Volume 84:Number 6(2013:Dec.) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Issue 2 (17th December 2011) Authors: Molin, A-M; Andrieux, J; Koolen, D A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; de Leeuw, N; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, F; Krepischi, A C; Le Caignec, C; Ogilvie, C Mackie; Maia, S; Mathieu-Dramard, M Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. Issue 7 (2nd July 2004) Authors: Oquendo, C E; Antonicka, H; Shoubridge, E A; Reardon, W; Brown, G K Journal: Journal of medical genetics Issue: Volume 41:Issue 7(2004) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Medical genetics: advances in brief: Analysis of limb reduction defects in babies exposed to chorionic villus sampling. Issue 8 (August 1994) Authors: Reardon, W Journal: Journal of medical genetics Issue: Volume 31:Issue 8(1994) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome. Issue 4 (April 1993) Authors: Reardon, W; Lewis, N; Hughes, H E Journal: Journal of medical genetics Issue: Volume 30:Issue 4(1993) Page Start: 325 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Craniosynostosis and chromosome 22q11 deletion. Issue 4 (April 1998) Authors: Dean, J C; De Silva, D C; Reardon, W Journal: Journal of medical genetics Issue: Volume 35:Issue 4(1998) Page Start: 346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and molecular findings in IPEX syndrome. Issue 1 (20th December 2005) Authors: Myers, A K; Perroni, L; Costigan, C; Reardon, W Journal: Archives of disease in childhood Issue: Volume 91:Issue 1(2006) Page Start: 63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Medical genetics. Issue 11 (4th November 2005) Authors: Reardon, W Journal: Journal of medical genetics Issue: Volume 42:Issue 11(2005) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. Issue 6 (18th November 2005) Authors: Hehr, U; Hehr, A; Uyanik, G; Phelan, E; Winkler, J; Reardon, W Journal: Journal of medical genetics Issue: Volume 43:Issue 6(2006) Page Start: 541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Issue 5 (23rd September 2005) Authors: Archer, H L; Whatley, S D; Evans, J C; Ravine, D; Huppke, P; Kerr, A; Bunyan, D; Kerr, B; Sweeney, E; Davies, S J; Reardon, W; Horn, J; MacDermot, K D; Smith, R A; Magee, A; Donaldson, A; Crow, Y; Hermon, G; Miedzybrodzka, Z; Cooper, D N Journal: Journal of medical genetics Issue: Volume 43:Issue 5(2006) Page Start: 451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗