1. Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. Issue 1 (21st November 2017) Authors: Tariq, M.; Khan, T.N.; Lundin, L.; Jameel, M.; Lönnerholm, T.; Baig, S.M.; Dahl, N.; Klar, J. Journal: Clinical genetics Issue: Volume 93:Issue 1(2018) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome. (17th February 2014) Authors: Lohan, S.; Spielmann, M.; Doelken, S.C.; Flöttmann, R.; Muhammad, F.; Baig, S.M.; Wajid, M.; Hülsemann, W.; Habenicht, R.; Kjaer, K.W.; Patil, S.J.; Girisha, K.M.; Abarca‐Barriga, H.H.; Mundlos, S.; Klopocki, E. Journal: Clinical genetics Issue: Volume 86:Number 4(2014:Oct.) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗