Browsing by Author Goncalves, T

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Issue DateTitleAuthor(s)
17-Jun-2020Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisBalogh, E; Chandler, JC; Varga, M; Tahoun, M; Menyhárd, DK; Schay, G; Goncalves, T; Hamar, R; Légrádi, R; Szekeres, Á; Gribouval, O; Kleta, R; Stanescu, H; Bockenhauer, D; Kerti, A; Williams, H; Kinsler, V; Di, W-L; Curtis, D; Kolatsi-Joannou, M; Hammid, H; Szőcs, A; Perczel, K; Maka, E; Toldi, G; Sava, F; Arrondel, C; Kardos, M; Fintha, A; Hossain, A; D’Arco, F; Kaliakatsos, M; Koeglmeier, J; Mifsud, W; Moosajee, M; Faro, A; Jávorszky, E; Rudas, G; Saied, MH; Marzouk, S; Kelen, K; Götze, J; Reusz, G; Tulassay, T; Dragon, F; Mollet, G; Motameny, S; Thiele, H; Dorval, G; Nürnberg, P; Perczel, A; Szabó, AJ; Long, DA; Tomita, K; Antignac, C; Waters, AM; Tory, K