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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
Lipska-Zietkiewicz, Beata S. ORCID: 0000-0002-4169-9685, Gellermann, Jutta, Boyer, Olivia ORCID: 0000-0002-3957-1359, Gribouval, Olivier ORCID: 0000-0003-0238-8224, Zietkiewicz, Szymon ORCID: 0000-0002-3435-4603, Kari, Jameela A., Shalaby, Mohamed A., Ozaltin, Fatih, Dusek, Jiri, Melk, Anette, Bayazit, Aysun K., Massella, Laura, Hyla-Klekot, Lidia, Habbig, Sandra, Godron, Astrid, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Bienias, Beata ORCID: 0000-0002-0176-9845, Drozdz, Dorota, Odeh, Rasha ORCID: 0000-0002-8419-0547, Jarmuzek, Wioletta ORCID: 0000-0002-9929-7486, Zachwieja, Katarzyna, Trautmann, Agnes, Antignac, Corinne and Schaefer, Franz
(2017).
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
PLoS One, 12 (8).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203