Browsing by Author Tarnopolsky, Mark
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| 31-May-2018 | Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery | Kumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Luedecke, Hermann-Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gillespie, Meredith K.; Brady, Lauren; Tarnopolsky, Mark; Madrigal Bajo, Irene; Eiris, Jesus; Domenech Salgado, Laura; Rabionet Janssen, Raquel; Strom, Tim M.; Ishihara, Naoko; Inagaki, Hidehito; Kurahashi, Hiroki; Dudding-Byth, Tracy; Palmer, Elizabeth E.; Field, Michael; Gecz, Jozef |