1. 20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits. Issue 3 (23rd September 2008) Authors: Lalani, S R; Thakuria, J V; Cox, G F; Wang, X; Bi, W; Bray, M S; Shaw, C; Cheung, S W; Chinault, A C; Boggs, B A; Ou, Z; Brundage, E K; Lupski, J R; Gentile, J; Waisbren, S; Pursley, A; Ma, L; Khajavi, M; Zapata, G; Friedman, R Journal: Journal of medical genetics Issue: Volume 46:Issue 3(2009) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Issue 6 (2nd April 2009) Authors: Lacbawan, F; Solomon, B D; Roessler, E; El-Jaick, K; Domené, S; Vélez, J I; Zhou, N; Hadley, D; Balog, J Z; Long, R; Fryer, A; Smith, W; Omar, S; McLean, S D; Clarkson, K; Lichty, A; Clegg, N J; Delgado, M R; Levey, E; Stashinko, E Journal: Journal of medical genetics Issue: Volume 46:Issue 6(2009) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. Issue 11 (19th November 2003) Authors: Shen, J J; Brown, C A; Lupski, J R; Potocki, L Journal: Journal of medical genetics Issue: Volume 40:Issue 11(2003) Page Start: 854 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Issue 6 (15th March 2009) Authors: Ben-Shachar, S; Lanpher, B; German, J R; Qasaymeh, M; Potocki, L; Nagamani, S C Sreenath; Franco, L M; Malphrus, A; Bottenfield, G W; Spence, J E; Amato, S; Rousseau, J A; Moghaddam, B; Skinner, C; Skinner, S A; Bernes, S; Armstrong, N; Shinawi, M; Stankiewicz, P; Patel, A Journal: Journal of medical genetics Issue: Volume 46:Issue 6(2009) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗