Citations 2
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
Mutation update for the SATB2 gene
Zárate, Yuri A. , Bosanko, Katherine A. , Caffrey, Aislling R., Bernstein, Jonathan A. , Mark, Paul R. , Manning, Melanie A., Bhambhani, Vikas, Seeley, Andrea , Estrada‐Veras, Juvianee , Dooren, Marieke F. van, Schwab, Maria, Melis, Daniela , Alsadah, Adnan, Sadler, Laurie S. , Esch, Hilde Van , Callewaert, Bert , Oostra, Ann , MacLean, Jane, Dentici, Maria Lisa , Orlando, Valeria , Lipson, Mark , Sparagana, Steven , Maarup, Timothy J., Alsters, Suzanne , Brautbar, Ariel, Thropp, Eliana Kovitch, Naidu, Sakkubai, Lees, Melissa , Smith, Douglas M. , Raggio, Víctor , García‐Miñáur, Sixto , Roeder, Elizabeth , Littlejohn, Rebecca O. , Pfotenhauer, Jean P., Jones, Marilyn C. , Balasubramanian, Meena , Martínez‐Monseny, Antonio Federico , Blok, Lot Snijders , Gavrilova, Ralitza, Fish, Jennifer L. , Callewaert, Bert , Martin, Donna M. , Williams, Marc S , Berry‐Kravis, Elizabeth , Vargas, Marcelo, Vanderver, Adeline , Thropp, Eliana Kovitch, Turner, Lesley Ann , Spangenberg, Lucía , Grange, Dorothy K.
Human Mutation | April 25, 2019 | Volume: No volume available | Issue: No issue available | Pages: No page available