1. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Issue 8 (17th March 2016) Authors: Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elżbieta; Rudzka-Dybała, Mariola; Yiş, Uluç; Çağlayan, Hande... Other Names: author non-byline.; Craiu Dana author non-byline.; De Jonghe Peter author non-byline.; Helbig Ingo author non-byline.; Guerrini Renzo author non-byline.; Lehesjoki Anna-Elina author non-byline.; Marini Carla author non-byline.; Muhle Hiltrud author non-byline.; Møller Rikke S author non-byline.;... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. Issue 12 (10th November 2020) Authors: De Nittis, Pasquelena; Efthymiou, Stephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Raza Alvi, Javeria; ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S; Gleeson, Joseph G; Murphy, David; Galehdari... Other Names: author non-byline.; Groppa Stanislav author non-byline.; Karashova Blagovesta Marinova author non-byline.; Nachbauer Wolfgang author non-byline.; Boesch Sylvia author non-byline.; Arning Larissa author non-byline.; Timmann Dagmar author non-byline.; Cormand Bru author non-byline.; Pérez-Dueñas B... Journal: Journal of medical genetics Issue: Volume 58:Issue 12(2021) Page Start: 815 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗