PMID Title Journal Publication Year Author View in RVdb
29437806 Rhabdomyolysis in Stuve-Wiedemann syndrome. BMJ Case Rep 2018 Ramdeny PS;Powell C;Chakraborty M;Hartley L View More
33724365 Germline SAMD9L truncation variants trigger global translational repression. J Exp Med 2021 Allenspach EJ;Soveg F;Finn LS;So L;Gorman JA;Rosen ABI;Skoda-Smith S;Wheeler MM;Barrow KA;Rich LM;Debley JS;Bamshad MJ;Nickerson DA;Savan R;Torgerson TR;Rawlings DJ View More