1. A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton. Issue 3 (June 1980) Authors: Stevenson, R E; Taylor, H A; Burton, O M; Hearn, H B Journal: Journal of medical genetics Issue: Volume 17:Issue 3(1980) Page Start: 238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. Issue 4 (April 1995) Authors: Tranebjaerg, L; Schwartz, C; Eriksen, H; Andreasson, S; Ponjavic, V; Dahl, A; Stevenson, R E; May, M; Arena, F; Barker, D Journal: Journal of medical genetics Issue: Volume 32:Issue 4(1995) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. Issue 7 (July 1997) Authors: Pai, G S; Hane, B; Joseph, M; Nelson, R; Hammond, L S; Arena, J F; Lubs, H A; Stevenson, R E; Schwartz, C E Journal: Journal of medical genetics Issue: Volume 34:Issue 7(1997) Page Start: 529 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58. Issue 6 (1st June 2002) Authors: Abidi, F E; Holinski-Feder, E; Rittinger, O; Kooy, F; Lubs, H A; Stevenson, R E; Schwartz, C E Journal: Journal of medical genetics Issue: Volume 39:Issue 6(2002) Page Start: 430 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. Issue 6 (June 1997) Authors: Stevenson, R E; Häne, B; Arena, J F; May, M; Lawrence, L; Lubs, H A; Schwartz, C E Journal: Journal of medical genetics Issue: Volume 34:Issue 6(1997) Page Start: 465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. Issue 1 (19th September 2008) Authors: Lyons, M J; Graham, J M; Neri, G; Hunter, A G W; Clark, R D; Rogers, R C; Moscarda, M; Boccuto, L; Simensen, R; Dodd, J; Robertson, S; DuPont, B R; Friez, M J; Schwartz, C E; Stevenson, R E Journal: Journal of medical genetics Issue: Volume 46:Issue 1(2009) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Discordance for Cornelia de Lange syndrome in twins. Issue 5 (October 1976) Authors: Stevenson, R E; Scott, C I Journal: Journal of medical genetics Issue: Volume 13:Issue 5(1976) Page Start: 402 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. Issue 6 (1st June 2006) Authors: Lubs, H; Abidi, F E; Echeverri, R; Holloway, L; Meindl, A; Stevenson, R E; Schwartz, C E Journal: Journal of medical genetics Issue: Volume 43:Issue 6(2006) Page Start: e30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. Issue 12 (12th August 2008) Authors: Abidi, F E; Holloway, L; Moore, C A; Weaver, D D; Simensen, R J; Stevenson, R E; Rogers, R C; Schwartz, C E Journal: Journal of medical genetics Issue: Volume 45:Issue 12(2008) Page Start: 787 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. P63 mutations are not a major cause of non-syndromic split hand/foot malformation. Issue 1 (1st January 2003) Authors: de Mollerat, X J; Everman, D B; Morgan, C T; Clarkson, K B; Rogers, R C; Colby, R S; Aylsworth, A S; Graham, J M; Stevenson, R E; Schwartz, C E Journal: Journal of medical genetics Issue: Volume 40:Issue 1(2003) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗