1. Phenotype delineation of ZNF462 related syndrome. Issue 10 (30th July 2019) Authors: Kruszka, Paul; Hu, Tommy; Hong, Sungkook; Signer, Rebecca; Cogné, Benjamin; Isidor, Betrand; Mazzola, Sarah E.; Giltay, Jacques C.; van Gassen, Koen L. I.; England, Eleina M.; Pais, Lynn; Ockeloen, Charlotte W.; Sanchez‐Lara, Pedro A.; Kinning, Esther; Adams, Darius J.; Treat, Kayla; Torres‐Marti... Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Issue 19 (23rd May 2022) Authors: Cordovado, Amélie; Schaettin, Martina; Jeanne, Médéric; Panasenkava, Veranika; Denommé-Pichon, Anne-Sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R; Prijoles, Eloise J; Mitchell, Wendy G; Ozmore, Jillian R; Juliette, Kali; To... Journal: Human molecular genetics Issue: Volume 31:Issue 19(2022) Page Start: 3325 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗