Anzahl der Einträge: 5.
Artikel
Issler, Naomi,
Afonso, Sara,
Weissman, Irith,
Jordan, Katrin,
Cebrian-Serrano, Alberto,
Meindl, Katrin,
Dahlke, Eileen,
Tziridis, Konstantin,
Yan, Guanhua,
Robles-López, José M.,
Tabernero, Lydia ,
Patel, Vaksha,
Kesselheim, Anne,
Klootwijk, Enriko D.,
Stanescu, Horia C.,
Dumitriu, Simona,
Iancu, Daniela,
Tekman, Mehmet,
Mozere, Monika,
Jaureguiberry, Graciana,
Outtandy, Priya,
Russell, Claire,
Forst, Anna-Lena,
Sterner, Christina,
Heinl, Elena-Sofia,
Othmen, Helga,
Tegtmeier, Ines,
Reichold, Markus,
Schiessl, Ina Maria ,
Limm, Katharina,
Oefner, Peter,
Witzgall, Ralph,
Fu, Lifei,
Theilig, Franziska,
Schilling, Achim,
Shuster Biton, Efrat,
Kalfon, Limor,
Fedida, Ayalla,
Arnon-Sheleg, Elite,
Ben Izhak, Ofer,
Magen, Daniella,
Anikster, Yair,
Schulze, Holger,
Ziegler, Christine,
Lowe, Martin,
Davies, Benjamin,
Böckenhauer, Detlef,
Kleta, Robert,
Falik Zaccai, Tzipora C. und
Warth, Richard
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology 33 (4), S. 732-745.
Reichold, Markus,
Klootwijk, Enriko D.,
Reinders, Joerg,
Otto, Edgar A.,
Milani, Mario ,
Broeker, Carsten,
Laing, Chris,
Wiesner, Julia,
Devi, Sulochana,
Zhou, Weibin,
Schmitt, Roland,
Tegtmeier, Ines,
Sterner, Christina,
Doellerer, Hannes,
Renner, Kathrin,
Oefner, Peter J.,
Dettmer, Katja,
Simbuerger, Johann M.,
Witzgall, Ralph,
Stanescu, Horia C.,
Dumitriu, Simona,
Iancu, Daniela,
Patel, Vaksha,
Mozere, Monika,
Tekman, Mehmet ,
Jaureguiberry, Graciana,
Issler, Naomi,
Kesselheim, Anne,
Walsh, Stephen B.,
Gale, Daniel P. ,
Howie, Alexander J.,
Martins, Joana R. ,
Hall, Andrew M.,
Kasgharian, Michael,
O’Brien, Kevin,
Ferreira, Carlos R.,
Atwal, Paldeep S.,
Jain, Mahim,
Hammers, Alexander ,
Charles-Edwards, Geoffrey,
Choe, Chi-Un,
Isbrandt, Dirk,
Cebrian-Serrano, Alberto,
Davies, Ben,
Sandford, Richard N.,
Pugh, Christopher,
Konecki, David S.,
Povey, Sue,
Bockenhauer, Detlef,
Lichter-Konecki, Uta,
Gahl, William A.,
Unwin, Robert J.,
Warth, Richard und
Kleta, Robert
(2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Journal of the American Society of Nephrology 29 (7), S. 1849-1858.
Volltext nicht vorhanden.
Sekula, Peggy,
Li, Yong,
Stanescu, Horia C.,
Wuttke, Matthias,
Ekici, Arif B.,
Bockenhauer, Detlef,
Walz, Gerd,
Powis, Stephen H.,
Kielstein, Jan T.,
Brenchley, Paul,
Eckardt, Kai-Uwe,
Kronenberg, Florian,
Kleta, Robert,
Köttgen, Anna,
Oefner, Peter J.,
Gronwald, Wolfram und
Zacharias, Helena
(2016)
Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.
Nephrology Dialysis Transplantation 32 (2), S. 325-332.
Volltext nicht vorhanden.
Klootwijk, Enriko D.,
Reichold, Markus,
Helip-Wooley, Amanda,
Tolaymat, Asad,
Broeker, Carsten,
Robinette, Steven,
Reinders, Jörg,
Peindl, Dominika Elisabeth,
Renner, Kathrin,
Eberhart, Karin,
Aßmann, Nadine,
Oefner, Peter J.,
Dettmer, Katja,
Sterner, Christina,
Schroeder, Josef,
Zorger, Niels,
Witzgall, Ralph,
Reinhold, Stephan W.,
Stanescu, Horia C.,
Bockenhauer, Detlef,
Jaureguiberry, Gracian,
Courtneidge, Holly,
Hall, Andrew M.,
Wijeyesekera, Anisha,
Holmes, Elaine,
Nicholson, Jeremy K.,
O'Brien, Kevin,
Bernardini, Isa,
Krasnewich, Donna M.,
Arcos-Burgos, Mauricio,
Izumi, Yuichiro,
Nonoguchi, Hiroshi,
Jia, Yuzhi,
Reddy, Janardan K.,
Ilya, Mohammad,
Unwin, Robert J.,
Gahl, William A.,
Warth, Richard und
Kleta, Robert
(2014)
Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome.
The New England Journal of Medicine 370, S. 129-138.
Volltext nicht vorhanden.
Hochschulschrift der Universität Regensburg
Issler, Naomi,
Afonso, Sara Cerqueira,
Weissman, Irith,
Jordan, Katrin,
Cebrian-Serrano, Alberto,
Meindl, Katrin,
Dahlke, Eileen,
Tziridis, Konstantin,
Yan, Guanhua,
Robles-López, José M.,
Tabernero, Lydia ,
Patel, Vaksha,
Kesselheim, Anne,
Klootwijk, Enriko D.,
Stanescu, Horia C.,
Dumitriu, Simona,
Iancu, Daniela,
Tekman, Mehmet,
Mozere, Monika,
Jaureguiberry, Graciana,
Outtandy, Priya,
Russell, Claire,
Forst, Anna-Lena,
Sterner, Christina,
Heinl, Elena-Sofia,
Othmen, Helga,
Tegtmeier, Ines,
Reichold, Markus,
Schiessl, Ina Maria ,
Limm, Katharina,
Oefner, Peter J.,
Witzgall, Ralph,
Fu, Lifei,
Theilig, Franziska,
Schilling, Achim,
Shuster Biton, Efrat,
Kalfon, Limor,
Fedida, Ayalla,
Arnon-Sheleg, Elite,
Ben Izhak, Ofer,
Magen, Daniella,
Anikster, Yair,
Schulze, Holger,
Ziegler, Christine,
Lowe, Martin,
Davies, Benjamin,
Böckenhauer, Detlef,
Kleta, Robert,
Falik Zaccai, Tzipora C. und
Warth, Richard
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Nicht ausgewählt, Universität Regensburg.
Volltext nicht vorhanden.
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