Al‐Sheddi, Tarfa

Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

Shaheen, Ranad , Mark, Paul R. , Prevost, Christopher T. , Al‐Kindi, Adila, Alhag, Ahmad, Estwani, Fatima, Al‐Sheddi, Tarfa , Alobeid, Eman, Ewida, Nour, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Bryant, Emily , Spinelli, Egidio, Barnett, Sarah , Kearney, Hutton M. , Accogli, Andrea , Scala, Marcello , Capra, Valeria , Fu, Dragony , Alkuraya, Fowzan S. , Barnett, Sarah S, Fu, Dragony , Alkuraya, Fowzan S , Alenazi, Mona M. , Hashem, Mais, Millichap, J Gordon , Nigro, Vincenzo , Scala, Marcello

Human Mutation | July 13, 2019 | Volume: 40 | Issue: 11 | Pages: 2108-2120

10.1002/humu.23870