Browsing by Author SYNAPS Study Group
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
|---|---|---|
| 5-Mar-2020 | Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification | Schottlaender, Lucia V.; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stepanie; Athanasiou Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P.M.; Livingston, John H.; Kalmar, Bernadett; Swayne, Orlando; Hotton, Gary; SYNAPS Study Group; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling S.; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J.; Brandner, Sebastian; Aurrand Lions, Michael; Houlden, Henry; Cormand Rifà, Bru |
| 9-Sep-2019 | Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination | Efthymiou, S.; Salpietro, V.; Malintan,N.; Poncelet, M.; Kriouile, Y.; Fortuna, S.; De Zorzi, R.; Payne, K.; Henderson, L.B.; Cortese, A.; Maddirevula, S.; Alhashmi, N.; Wiethoff, S.; Ryten, M.; Botia, J.A.; Provitera, V.; Schuelke, M.; Vandrovcova, J.; SYNAPS Study Group; Walsh, L.; Torti, E.; Iodice, V.; Najafi, M.; Karimiani, E.G.; Maroofian, R.; Siquier-Pernet, K.; Boddaert, N.; De Lonlay, P.; Cantagrel, V.; Aguennouz, M.; El Khorassani, M.; Schmidts, M.; Alkuraya, F.S.; Edvardson, S.; Nolano, M.; Devaux, J.; Houlden, H.; Cormand Rifà, Bru |
| 10-Nov-2020 | Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome | De Nittis, Pasquelena; Efthymiou. Sephanie; 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, Hamid; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Lesca, Gaetan; Chatron, Nicolas; Salpietro, Vincenzo; Christoforou, Marilena; Houlden, Henry; Simonds, William F; Pedrazzini, Thierry; Maroofian, Reza; Reymond, Alexandre; Cormand Rifà, Bru; SYNAPS Study Group |