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2022
Wopperer, Florian J., Knaup, Karl X., Stanzick, Kira J., Schneider, Karen, Jobst-Schwan, Tilman, Ekici, Arif B., Uebe, Steffen, Wenzel, Andrea, Schliep, Stefan, Schuerfeld, Carsten, Seitz, Randolf, Bernhardt, Wanja, Goedel, Markus, Wiesener, Antje, Popp, Bernt ORCID: 0000-0002-3679-1081, Stark, Klaus J., Groene, Hermann-Josef, Friedrich, Bjoern, Weiss, Martin, Basic-Jukic, Nikolina
ORCID: 0000-0002-0221-2758, Schiffer, Mario, Schroeppel, Bernd, Huettel, Bruno, Beck, Bodo B., Sayer, John A., Ziegler, Christine, Buettner-Herold, Maike, Amann, Kerstin, Heid, Iris M., Reis, Andre, Pasutto, Francesca and Wiesener, Michael S.
(2022).
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int., 102 (2).
S. 405 - 421.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
2020
Zivna, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyletal, Petr ORCID: 0000-0002-9357-1237, Baresova, Veronika, Hodanova, Katerina, Sovova, Jana, Hartmannova, Hana, Votruba, Miroslav, Treslova, Helena, Jedlickova, Ivana, Sikora, Jakub, Hulkova, Helena, Robins, Victoria, Hnizda, Ales, Zivny, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kalman, Haeeffner, Karsten, Wolf, Matthias T. F., Bleyer, Michael E., Sayer, John A., Ong, Albert C. M., Balogh, Lidia, Jakubowska, Anna, Laszkiewicz, Agnieszka
ORCID: 0000-0002-0317-4255, Clissold, Rhian, Shaw-Smith, Charles, Munshi, Raj, Haws, Robert M., Izzi, Claudia, Capelli, Irene, Santostefano, Marisa, Graziano, Claudio
ORCID: 0000-0003-3875-6869, Scolari, Francesco, Sussman, Amy, Trachtman, Howard
ORCID: 0000-0001-7447-9489, Decramer, Stephane, Matignon, Marie, Grimbert, Philippe, Shoemaker, Lawrence R., Stavrou, Christoforos, Abdelwahed, Mayssa, Belghith, Neila, Sinclair, Matthew, Claes, Kathleen, Kopel, Tal, Moe, Sharon, Deltas, Constantinos, Knebelmann, Bertrand, Rampoldi, Luca, Kmoch, Stanislav and Bleyer, Anthony J.
(2020).
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int., 98 (6).
S. 1589 - 1605.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
2018
Mueller, Roman-Ulrich, Haas, Christian S. and Sayer, John A. ORCID: 0000-0003-1881-3782
(2018).
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan.
Clin. Kidney J., 11 (1).
S. 62 - 70.
OXFORD:
OXFORD UNIV PRESS.
ISSN 2048-8513
2016
Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung ORCID: 0000-0002-8741-6177, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A.
ORCID: 0000-0003-1881-3782, Bockenhauer, Detlef
ORCID: 0000-0001-5878-941X, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P. and Hildebrandt, Friedhelm
(2016).
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney Int., 89 (2).
S. 468 - 476.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
2011
Beck, Bodo B., Trachtman, Howard ORCID: 0000-0001-7447-9489, Gitman, Michael, Miller, Ilene, Sayer, John A.
ORCID: 0000-0003-1881-3782, Pannes, Andrea, Baasner, Anne, Hildebrandt, Friedhelm and Wolf, Matthias T. F.
(2011).
Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD.
Am. J. Kidney Dis., 58 (5).
S. 821 - 826.
PHILADELPHIA:
W B SAUNDERS CO-ELSEVIER INC.
ISSN 0272-6386