Universität zu Köln

Journal Article

Beck, Bodo and Netzer, Christian (2018). Introduction to the Topic: Hereditary Kidney Disease Nephrogenics is coming of age. Med. Genet., 30 (4). S. 389 - 391. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Buescher, Anja K., Kranz, Birgitta, Beck, Bodo, Hoefele, Julia, Oh, Jun, Lange-sperandio, Baerbel, Jungraithmayr, Therese, Weber, Lutz T., Kemper, Markus J., Toenshoff, Burkhard, Melk, Anette, Hoyer, Peter F., Konrad, Martin and Weber, Stefanie (2014). cns/srns-outcome-study: Efficacy Of Immunosuppressive Therapy And Renal Function In Patients With Hereditary And Non-hereditary Steroid-resistant Nephrotic Syndrome. Pediatr. Nephrol., 29 (9). S. 1673 - 1675. NEW YORK: SPRINGER. ISSN 1432-198X

Habbig, Sandra, Bartram, Malte, Rinschen, Markus ORCID: 0000-0002-9252-1342, Schermer, Bermhard, Weber, Lutz and Beck, Bodo (2015). IDENTIFICATION OF A NOVEL, DE NOVO MUTATION IN THE ACTN4-GENE IN A 12-YEAR OLD GIRL WITH END-STAGE RENAL DISEASE. Pediatr. Nephrol., 30 (9). S. 1668 - 1669. NEW YORK: SPRINGER. ISSN 1432-198X

Leenen, Esther, Beck, Bodo, Joerres, Achim and Weidemann, Alexander (2020). Rare genetic Diseases with adult onset - Investigations of a Transplant Centre in Cologne. Internist, 61 (SUPPL 1). S. S53 - 1. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1289

Leenen, Esther, Erger, Florian, Altmuller, Janine ORCID: 0000-0003-4372-1521, Wenzel, Andrea, Thiele, Holger, Harth, Ana ORCID: 0000-0002-1551-9214, Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Lokhande, Shanti, Joerres, Achim, Becker, Jan-Ulrich, Ekici, Arif, Huettel, Bruno, Beck, Bodo and Weidemann, Alexander (2022). Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis. Nephrol. Dial. Transplant., 37 (10). S. 1895 - 1906. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Lichosik, Marianna, Beck, Bodo and Jobs, Katarzyna (2017). DELAYED DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE 1-A CASE RAPORT OF TWO FEMALE SIBLINGS. Pediatr. Nephrol., 32 (9). S. 1768 - 1769. NEW YORK: SPRINGER. ISSN 1432-198X

Madsen, Jens Otto Broby ORCID: 0000-0003-1186-4683, Sauer, Sabrina, Beck, Bodo and Johannesen, Jesper ORCID: 0000-0003-2772-2567 (2018). CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia. J. Clin Res. Pediatr. Endocrinol., 10 (1). S. 83 - 87. FINDIKZADE: GALENOS YAYINCILIK. ISSN 1308-5735

Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine and Groothoff, Jaap (2023). Genetic assessment in primary hyperoxaluria: why it matters. Pediatr. Nephrol., 38 (3). S. 625 - 635. NEW YORK: SPRINGER. ISSN 1432-198X

Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Mueller-Hofstede, Cornelie, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Heller, Raoul, Beck, Bodo, Ruether, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stoehr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J. (2017). Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol. Genet. Genom. Med., 5 (5). S. 531 - 553. HOBOKEN: WILEY. ISSN 2324-9269

Wuehl, Elke, Beck, Bodo, Koemhoff, Martin, Ardissino, Gianluigi, Ariceta, Gema, Mons, Fabienne, Harambat, Jerome, Mueller, Dominik, Leite, Jose and Schaefer, Franz (2015). EARLY DIAGNOSIS AND TREATMENT ARE CRUCIAL IN COBALAMIN-C DEFICIENCY-ASSOCIATED THROMBOTIC MICROANGIOPATHY. Pediatr. Nephrol., 30 (9). S. 1545 - 1547. NEW YORK: SPRINGER. ISSN 1432-198X

Zaniew, Marcin, Moczulska, Anna ORCID: 0000-0002-8479-050X, Szezepanska, Maria, Mizerska-wasiak, Malgorzata, Rogowska-kalisz, Anna, Gadomskaprokop, Katarazyna, Wasilewska, Anna, Zawadziki, Jan, Pawlaczyk, Krzysztof ORCID: 0000-0001-6237-0814, Kiryluk, Krysztof, Vargas-poussou, Rosa, Bichet, Daniel, Beck, Bodo, Ludwig, Michael, Konrad, Martin and Sikora, Przemyslaw (2014). Genetic Registry Of Inherited Tubulopathies In Poland. Pediatr. Nephrol., 29 (9). S. 1672 - 1673. NEW YORK: SPRINGER. ISSN 1432-198X

van der Wijst, Jenny ORCID: 0000-0002-1547-516X, Konrad, Martin, Verkaart, Sjoerd A. J., Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Latta, Femke, Altmueller, Janine, Thieled, Holger, Beck, Bodo, Schlingmann, Karl Peter and de Baaij, Jeroen H. F. (2018). A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia. Nephron, 139 (4). S. 359 - 367. BASEL: KARGER. ISSN 2235-3186