Universität zu Köln

Burgmaier, Kathrin, Brinker, Leonie, Erger, Florian, Beck, Bodo B., Benz, Marcus R., Bergmann, Carsten, Boyer, Olivia, Collard, Laure, Dafinger, Claudia, Fila, Marc, Kowalewska, Claudia, Lange-Sperandio, Baerbel, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Ortiz-Bruechle, Nadina, Patzer, Ludwig, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Schild, Raphael, Seeman, Tomas, Sever, Lale, Sikora, Przemyslaw ORCID: 0000-0002-5698-6863, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Teixeira, Ana, Thumfart, Julia, Uetz, Barbara, Weber, Lutz Thorsten, Wuehl, Elke, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2021). Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney Int., 100 (3). S. 650 - 660. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Ebner, Kathrin, Dafinger, Claudia, Ortiz-Bruechle, Nadina, Koerber, Friederike, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Benzing, Thomas, Doetsch, Joerg, Zerres, Klaus, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Pediatr. Nephrol., 32 (7). S. 1269 - 1274. NEW YORK: SPRINGER. ISSN 1432-198X

Garczyk, Stefan, Ortiz-Bruechle, Nadina, Schneider, Ursula, Lurje, Isabella, Guricova, Karolina, Gaisa, Nadine T., Lorsy, Eva, Lindemann-Docter, Katharina, Heidenreich, Axel and Knuechel, Ruth (2020). Next-Generation Sequencing Reveals Potential Predictive Biomarkers and Targets of Therapy for Urothelial Carcinoma in Situ of the Urinary Bladder. Am. J. Pathol., 190 (2). S. 323 - 333. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1525-2191

Okorn, Christine, Goertz, Anne, Vester, Udo, Beck, Bodo B., Bergmann, Carsten, Habbig, Sandra, Koenig, Jens, Konrad, Martin, Mueller, Dominik, Oh, Jun, Ortiz-Bruechle, Nadina, Patzer, Ludwig, Schild, Raphael, Seeman, Tomas, Staudeu, Hagen, Thumfart, Julia ORCID: 0000-0003-1162-5295, Toenshoff, Burkhard, Walden, Ulrike, Weber, Lutz, Zaniew, Marcin, Zappel, Hildegard, Hoyer, Peter F. and Weber, Stefanie (2019). HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. Pediatr. Nephrol., 34 (6). S. 1065 - 1076. NEW YORK: SPRINGER. ISSN 1432-198X

Schnitzler, Tician, Ortiz-Bruechle, Nadina, Schneider, Ursula, Lurje, Isabella, Guricova, Karolina, Buchner, Alexander ORCID: 0000-0001-7895-7070, Schulz, Gerald Bastian, Heidenreich, Axel, Gaisa, Nadine Therese, Knuechel, Ruth and Garczyk, Stefan (2020). Pure high-grade papillary urothelial bladder cancer: a luminal-like subgroup with potential for targeted therapy. Cell. Oncol., 43 (5). S. 807 - 820. DORDRECHT: SPRINGER. ISSN 2211-3436