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Displaying 5 results.
    • Journal article
    Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
    Burgmaier, Kathrin Kunzmann, Kevin Ariceta, Gema Bergmann, Carsten Buescher, Anja Katrin Burgmaier, Mathias Dursun, Ismail Duzova, Ali Eid, Loai Erger, Florian Feldkoetter, Markus Galiano, Matthias Geßner, Michaela Goebel, Heike Gokce, Ibrahim Haffner, Dieter Hooman, Nakysa Hoppe, Bernd Jankauskiene, Augustina Klaus, Guenter König, Jens Litwin, Mieczyslaw Massella, Laura Mekahli, Djalila Melek, Engin Mir, Sevgi Pape, Lars Prikhodina, Larisa Ranchin, Bruno Schild, Raphael Seeman, Tomas Sever, Lale Shroff, Rukshana Soliman, Neveen A Stabouli, Stella Stanczyk, Malgorzata Tabel, Yilmaz Taranta-Janusz, Katarzyna Testa, Sara Thumfart, Julia Topaloglu, Rezan Weber, Lutz Thorsten Wicher, Dorota Wühl, Elke Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Zerres, Klaus ESCAPE Study Group GPN Study Group Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph ARegPKD consortium Ranguelov, Nadejda[UCL] Godefroid, Nathalie[UCL] (2018) The Journal of pediatrics — Vol. 199, p. 22-28.e6 (2018)
    • Journal article
    mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
    Schlingmann, Karl P. Jouret, François Shen, Kuang Nigam, Anukrati Arjona, Francisco J. Dafinger, Claudia Houillier, Pascal Jones, Deborah P. Kleinerüschkamp, Felix Oh, Jun Godefroid, Nathalie[UCL] Eltan, Mehmet Güran, Tülay Burtey, Stéphane Parotte, Marie-Christine König, Jens Braun, Alina Bos, Caro Ibars Serra, Maria Rehmann, Holger Zwartkruis, Fried J.T. Renkema, Kirsten Y. Klingel, Karin Schulze-Bahr, Eric Schermer, Bernhard Bergmann, Carsten Altmüller, Janine Thiele, Holger Beck, Bodo B. Dahan, Karin[UCL] Sabatini, David Liebau, Max C. Vargas-Poussou, Rosa Knoers, Nine V.A.M. Konrad, Martin de Baaij, Jeroen H.F. (2021) Journal of the American Society of Nephrology — Vol. 32, no. 11, p. 2885-2899 (2021)
    • Journal article
    Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).
    Burgmaier, Kathrin Ariceta, Gema Bald, Martin Buescher, Anja Katrin Burgmaier, Mathias Erger, Florian Gessner, Michaela Gokce, Ibrahim König, Jens Kowalewska, Claudia Massella, Laura Mastrangelo, Antonio Mekahli, Djalila Pape, Lars Patzer, Ludwig Potemkina, Alexandra Schalk, Gesa Schild, Raphael Shroff, Rukshana Szczepanska, Maria Taranta-Janusz, Katarzyna Tkaczyk, Marcin Weber, Lutz Thorsten Wühl, Elke Wurm, Donald Wygoda, Simone Zagozdzon, Ilona Dötsch, Jörg Oh, Jun Schaefer, Franz Liebau, Max Christoph ARegPKD consortium Ranguelov, Nadejda[UCL] (2020) Scientific reports — Vol. 10, no.1, p. 16025 [1-12] (2020)
    • Journal article
    Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
    Devane, John Ott, Elisabeth Olinger, Eric[UCL] Epting, Daniel Decker, Eva Friedrich, Anja Bachmann, Nadine Renschler, Gina Eisenberger, Tobias Briem-Richter, Andrea Grabhorn, Enke Freya Powell, Laura Wilson, Ian J Rice, Sarah J Miles, Colin G Wood, Katrina Genomics England Research Consortium Trivedi, Palak Hirschfield, Gideon Pietrobattista, Andrea Wohler, Elizabeth Mezina, Anya Sobreira, Nara Agolini, Emanuele Maggiore, Giuseppe Dahmer-Heath, Mareike Yilmaz, Ali Boerries, Melanie Metzger, Patrick Schell, Christoph Grünewald, Inga Konrad, Martin König, Jens Schlevogt, Bernhard Sayer, John A Bergmann, Carsten (2022) American journal of human genetics — Vol. 109, no.5, p. 928-943 (2022)
    • Journal article
    Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD
    Nalcacioglu, Hulya Dunand, Oliver Mastrangelo, Antonio Murer, Luisa Emma, Francesco Ruzgiene, Dovile Taranta-Janusz, Katarzyna Balasz-Chmielewska, Irena Miklaszewska, Monika Stanczyk, Malgorzata Sikora, Przemyslaw Kowalewska, Claudia Szczepanska, Maria Teixeira, Ana Rachisan, Andreea Papachristou, Fotios Paripović, Dušan Prikhodina, Larisa Jilani, Houweyda Bayazit, Aysun Karabay Soylu, Alper Candan, Cengiz Sever, Lale Emre, Sevinc Cicek, Neslihan Akinci, Nurver Mir, Sevgi Poyrazoğlu, Hakan M. Tabel, Yilmaz Mencarelli, Francesca Burgmaier, Kathrin Kilian, Samuel Arbeiter, Klaus Atmis, Bahriye Büscher, Anja Derichs, Ute Dursun, Ismail Duzova, Ali Eid, Loai Akram Galiano, Matthias Gessner, Michaela Gokce, Ibrahim Haeffner, Karsten Hooman, Nakysa Jankauskiene, Augustina Körber, Friederike Longo, Germana Massella, Laura Mekahli, Djalila Miloševski-Lomić, Gordana Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph Burgmaier, Kathrin Kilian, Samuel Arbeiter, Klaus Atmis, Bahriye Büscher, Anja Derichs, Ute Dursun, Ismail Duzova, Ali Eid, Loai Akram Galiano, Matthias Gessner, Michaela Gokce, Ibrahim Haeffner, Karsten Hooman, Nakysa Jankauskiene, Augustina Longo, Germana Massella, Laura Mekahli, Djalila Miloševski-Lomić, Gordana Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph Potemkina, Alexandra Ranguelov, Nadejda[UCL] Collard, Laure De Mul, Aurélie Feldkoetter, Markus Seeman, Tomas Zieg, Jakub Thumfart, Julia Grundmann, Franziska Buchholz, Björn Pape, Lars Gross, Oliver Patzer, Ludwig Schild, Raphael Haffner, Dieter Bernhardt, Wanja Wuehl, Elke Henn, Michael Halbritter, Jan Klaus, Günter Lechner, Felix Lange-Sperandio, Bärbel Uetz, Barbara Benz, Marcus König, Jens Staude, Hagen Wurm, Donald Bald, Martin Soliman, Neveen A. Ariceta, Gema Rodriguez, Juan David Gonzalez de la Cerda Ojeda, Francisco Harambat, Jerome Ranchin, Bruno Fila, Marc Dossier, Claire Boyer, Olivia Marlais, Matko (2021) Scientific Reports — Vol. 11, no.1, p. 1-10 (2021)