1. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Issue 12 (20th July 2016) Authors: Smogavec, Mateja; Cleall, Alison; Hoyer, Juliane; Lederer, Damien; Nassogne, Marie-Cécile; Palmer, Elizabeth E; Deprez, Marie; Benoit, Valérie; Maystadt, Isabelle; Noakes, Charlotte; Leal, Alejandro; Shaw, Marie; Gecz, Jozef; Raymond, Lucy; Reis, André; Shears, Deborah; Brockmann, Knut; Zweier, C... Journal: Journal of medical genetics Issue: Volume 53:Issue 12(2016) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Pure de novo partial trisomy 6p in a girl with craniosynostosis1. Issue 2 (10th January 2013) Authors: Varvagiannis, Konstantinos; Stefanidou, Amalia; Gyftodimou, Yolanda; Lord, Helen; Williams, Louise; Sarri, Catherine; Pandelia, Efi; Bazopoulou‐Kyrkanidou, Euterpe; Noakes, Charlotte; Lester, Tracy; Wilkie, Andrew O.M.; Petersen, Michael B. Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗