 | Up a level |
Journal Article
Verploegen, Maartje F. A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Barany, Peter, Baron, Stephanie 
ORCID: 0000-0002-0375-6968, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bokenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calo, Lorenzo A., Decramer, Stephane, Devuyst, Olivier ORCID: 0000-0003-3744-4767, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma ORCID: 0000-0002-8232-6818, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos ORCID: 0000-0003-0104-4884, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi ORCID: 0000-0003-4682-0170, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perello, Manel ORCID: 0000-0003-1859-5279, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yuksel, Selcuk, Zlatanova, Galia ORCID: 0009-0000-0731-9151, Bockenhauer, Detlef, Emma, Francesco ORCID: 0000-0002-0383-3468 and Nijenhuis, Tom ORCID: 0000-0002-4375-7236
(2022).
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrol. Dial. Transplant., 37 (12).
S. 2474 - 2487.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2385
Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm and Sanna-Cherchi, Simone
(2021).
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am. J. Hum. Genet., 108 (2).
S. 357 - 368.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605