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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
Garcia, Sergio Camilo Lopez, Emma, Francesco, Walsh, Stephen, Fila, Marc, Hooman, Nakysa, Marcin, Zaniew, Bertholet-thomas, Aurelia, Colussi, Giacomo, Ebner, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Nevem A., Ariceta, Ciema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor ORCID: 0000-0002-3377-1245, Tsygin, Alexey, Demmer, Stephan, Gil-pena, Helena, Koster-Kamphuis, Linda
ORCID: 0000-0002-9971-995X, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Tmka, Peter, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela, Konig, Jens, Taroni, Francesca, Thumfart, Julia
ORCID: 0000-0003-1162-5295, Trepiccione, Francesco, Winding, Louise, Wuhl, Elke, Agbas, Ayse, Belkevich, Anna, Vargas-poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Coskun, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallen, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Consortium, Drta, Kleta, Robert, Schaefer, Franz and Bockenhauer, Detlef
ORCID: 0000-0001-5878-941X
(2018).
LONG-TERM OUTCOME AND TREATMENT PRACTICES IN DISTAL RENALTUBULAR ACIDOSIS.
Pediatr. Nephrol., 33 (10).
S. 1817 - 1818.
NEW YORK:
SPRINGER.
ISSN 1432-198X
Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B., Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo ORCID: 0000-0001-6133-1899, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A., Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane
ORCID: 0000-0001-6984-762X, Gil-Pena, Helena, Koster-Kamphuis, Linda
ORCID: 0000-0002-9971-995X, La Scola, Claudio
ORCID: 0000-0002-2644-7447, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter
ORCID: 0000-0002-5584-2622, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A., Koenig, Jens, Taroni, Francesca, Thumfart, Julia
ORCID: 0000-0003-1162-5295, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse
ORCID: 0000-0002-3658-8622, Belkevich, Anna, Vargas-Poussou, Rosa
ORCID: 0000-0002-4169-0680, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia
ORCID: 0000-0002-3957-1359, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria
ORCID: 0000-0002-6772-1983, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie
ORCID: 0000-0002-6323-6673, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef
ORCID: 0000-0001-5878-941X, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J., Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra
ORCID: 0000-0003-3092-7790, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J., Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan and Mohebbi, Nilufar
(2019).
Treatment and long-term outcome in primary distal renal tubular acidosis.
Nephrol. Dial. Transplant., 34 (6).
S. 981 - 992.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2385
Reichold, Markus, Klootwijk, Enriko D., Reinders, Joerg, Otto, Edgar A., Milani, Mario ORCID: 0000-0001-6098-3991, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J., Dettmer, Katja, Simbuerger, Johann M., Witzgall, Ralph, Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet
ORCID: 0000-0002-4181-2676, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B., Gale, Daniel P., Howie, Alexander J., Martins, Joana R., Hall, Andrew M., Kasgharian, Michael, O'Brien, Kevin, Ferreira, Carlos R., Atwal, Paldeep S., Jain, Mahim, Hammers, Alexander
ORCID: 0000-0001-9530-4848, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N., Pugh, Christopher, Konecki, David S., Povey, Sue, Bockenhauer, Detlef
ORCID: 0000-0001-5878-941X, Lichter-Konecki, Uta, Gahl, William A., Unwin, Robert J., Warth, Richard
ORCID: 0000-0001-6084-0659 and Kleta, Robert
(2018).
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
J. Am. Soc. Nephrol., 29 (7).
S. 1849 - 1859.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1533-3450
Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja ORCID: 0000-0002-4472-8584, Holm, Rikke, Baumann, Matthias, Koenig, Jens, Lee, Jessica J. Y., Drogemoller, Britt
ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard
ORCID: 0000-0001-6084-0659, van Karnebeek, Clara D. M., Vilsen, Bente
ORCID: 0000-0002-4727-9382, Bockenhauer, Detlef
ORCID: 0000-0001-5878-941X and Konrad, Martin
(2018).
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am. J. Hum. Genet., 103 (5).
S. 808 - 817.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605