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2021
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
2018
Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian ORCID: 0000-0002-2768-1702, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim ORCID: 0000-0002-6896-5162, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa ORCID: 0000-0002-0702-4932, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata ORCID: 0000-0001-6613-1642, Tabel, Yilmaz, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Testa, Sara, Thumfart, Julia ORCID: 0000-0003-1162-5295, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080
(2018).
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
J. Pediatr., 199.
S. 22 - 35.
NEW YORK:
MOSBY-ELSEVIER.
ISSN 1097-6833
2017
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
Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Dursun, Ismail, Duzova, Ali, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Goekce, Ibrahim, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Kunzmann, Kevin, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila, Melek, Engin, Miklaszewska, Monika, Ranchin, Bruno, Sander, Anja, Shroff, Rukshana, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota, Yuzbasioglu, Ayse, Zachwieja, Katarzyna, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph
(2017).
CHARACTERIZATION OF POTENTIAL RISK MARKERS OF THE RENAL ARPKD PHENOTYPE.
Pediatr. Nephrol., 32 (9).
S. 1768 - 1770.
NEW YORK:
SPRINGER.
ISSN 1432-198X
Erger, Florian ORCID: 0000-0002-2768-1702, Bruechle, Nadina Ortiz, Gembruch, Ulrich ORCID: 0000-0001-8284-4669 and Zerres, Klaus
(2017).
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Arch. Gynecol. Obstet., 295 (4).
S. 897 - 907.
HEIDELBERG:
SPRINGER HEIDELBERG.
ISSN 1432-0711
2015
Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph
(2015).
AREGPKD - A EUROPEAN ARPKD REGISTRY STUDY.
Pediatr. Nephrol., 30 (9).
S. 1673 - 1675.
NEW YORK:
SPRINGER.
ISSN 1432-198X
Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080
(2015).
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
BMC Nephrol., 16.
LONDON:
BIOMED CENTRAL LTD.
ISSN 1471-2369
Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080
(2015).
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
BMC Nephrol., 16.
LONDON:
BIOMED CENTRAL LTD.
ISSN 1471-2369
2014
Ebner, Kathrin, Feldkoetter, Markus, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Konrad, Martin, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila, Ranchin, Bruno, Testa, Sara, Weber, Lutz Thorsten, Zerres, Klaus, Schaefer, Franz, Doetsch, Joerg and Liebau, Max Christoph
(2014).
Aregpkd - A European Arpkd Registry Study.
Pediatr. Nephrol., 29 (9).
S. 1835 - 1836.
NEW YORK:
SPRINGER.
ISSN 1432-198X
Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin ORCID: 0000-0001-9039-2615, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques
(2014).
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Hum. Mutat., 35 (10).
S. 1221 - 1233.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1098-1004
Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin ORCID: 0000-0001-9039-2615, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques
(2014).
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome (vol 35, pg 1221, 2014).
Hum. Mutat., 35 (12).
S. 1542 - 1543.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1098-1004
2011
Bergmann, Carsten, von Bothmer, Jennifer, Bruechle, Nadina Ortiz, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars ORCID: 0000-0002-3635-6418, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antonia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia ORCID: 0000-0002-7917-7129, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard and Zerres, Klaus
(2011).
Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease.
J. Am. Soc. Nephrol., 22 (11).
S. 2047 - 2057.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1046-6673