Resultados da busca - Anna Szőcs

Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis por Eszter Balogh, Jennifer C. Chandler, Máté Varga, Mona Tahoun, Dóra K. Menyhárd, Gusztáv Schay, Tomas Goncalves, Renáta Hamar, Regina Légrádi, Ákos Szekeres, Olivier Gribouval, Robert Kleta, Horia Stanescu, Detlef Böckenhauer, Andrea Kerti, Hywel Williams, Veronica A. Kinsler, Wei‐Li Di, David Curtis, Maria Kolatsi‐Joannou, Hafsa Hammid, Anna Szőcs, Kristóf Perczel, Erika Maka, Gergely Toldi, Florentina Sava, Christelle Arrondel, Magdolna Kardos, Attila Fintha, Ahmed Hossain, Felipe D’Arco, Marios Kaliakatsos, Jutta Köeglmeier, William Mifsud, Mariya Moosajee, Ana Faro, Eszter Jávorszky, Gábor Rudas, Marwa H. Saied, Salah Marzouk, Kata Kelen, Judit Götze, György Reusz, Tivadar Tulassay, François Dragon, Géraldine Mollet, Susanne Motameny, Hölger Thiele, Guillaume Dorval, Peter Nürnberg, András Perczel, Attila J. Szabó, David A. Long, Kazunori Tomita, Corinne Antignac, Aoife Waters, Kálmán Tory

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