Browsing by Author Maroofian, Reza
Showing results 1 to 4 of 4
| 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 |
| 23-Jul-2020 | Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants | Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S.; Mojarrad, Majid; El Khashab, Heba; deHoll, Leigh; Yue, Wyatt; Alsaif, Hessa S.; Zanetti, Maria N.; Bello, Oscar; Person, Richard; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh H; Efthymiou, Stephanie; SYNaPS Study Group; El Bassyouni, Hala T.; Soliman, Doaa R.; Tekes, Selahattin; Ozer, Leyla; Baltaci, Volkan; Khan, Suliman; Beetz, Christian; Amr, Khalda S.; Salpietro, Vicenzo; Jamshidi, Yalda; Alkuraya, Fowzan S.; Houlden, Henry; 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 |
| 1-Jan-2019 | Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy | Pant, Devesh C.; Dorboz, Imen; Schlüter, Agatha; Fourcade, Stéphane; Launay, Nathalie; Joya, Javier; Aguilera Albesa, Sergio; Yoldi, Maria Eugenia; Casasnovas Pons, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothée; Lesca, Gaetan; Siquier Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Carles; Rubbini, Davide; Terriente, Javier; James, Kiely N.; Musaev, Damir; Zaki, Maha S.; Patterson, Marc C.; Lanpher, Brendan C.; Klee, Eric W.; Pinto e Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M.; Cohen, Julie S.; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamrez; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G.; Pujades, Cristina; Fatemi, Ali; Boespflug‐Tanguy, Odile; Pujol Onofre, Aurora |