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Journal Article
Balogh, Eszter 
ORCID: 0000-0003-2813-4759, Chandler, Jennifer C. ORCID: 0000-0001-9785-4528, Varga, Mate ORCID: 0000-0003-4289-1705, Tahoun, Mona, Menyhard, Dora K., Schay, Gusztav, Goncalves, Tomas ORCID: 0000-0002-3342-0461, Hamar, Renata, Legradi, Regina ORCID: 0000-0002-5634-4000, Szekeres, Akos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Szocs, Anna, Perczel, Kristof, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D'Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Javorszky, Eszter, Rudas, Gabor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Gotze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, Francois, Mollet, Geraldine, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Dorval, Guillaume ORCID: 0000-0003-3883-1398, Nurnberg, Peter, Perczel, Andras, Szabo, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M. and Tory, Kalman
(2020).
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc. Natl. Acad. Sci. U. S. A., 117 (26).
S. 15137 - 15148.
WASHINGTON:
NATL ACAD SCIENCES.
ISSN 0027-8424
Larkin, Frank, Heindl, Ludwig M., He, Mingguang ORCID: 0000-0002-6912-2810 and Moosajee, Mariya ORCID: 0000-0003-1688-5360
(2021).
Publication objectives and processes at the British Journal of Ophthalmology: what authors and readers need to know.
Br. J. Ophthalmol., 105 (8).
S. 1041 - 1043.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-2079