Anzahl der Einträge: 5.
2021
Schlingmann, Karl P.,
Renigunta, Aparna,
Hoorn, Ewout J.,
Forst, Anna-Lena,
Renigunta, Vijay,
Atanasov, Velko,
Mahendran, Sinthura,
Barakat, Tahsin Stefan ,
Gillion, Valentine,
Godefroid, Nathalie,
Brooks, Alice S.,
Lugtenberg, Dorien,
Lake, Jennifer ,
Debaix, Huguette,
Rudin, Christoph,
Knebelmann, Bertrand,
Tellier, Stephanie,
Rousset-Rouvière, Caroline,
Viering, Daan,
de Baaij, Jeroen H. F. ,
Weber, Stefanie,
Palygin, Oleg ,
Staruschenko, Alexander,
Kleta, Robert,
Houillier, Pascal,
Bockenhauer, Detlef,
Devuyst, Olivier,
Vargas-Poussou, Rosa,
Warth, Richard ,
Zdebik, Anselm A. und
Konrad, Martin
(2021)
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Journal of the American Society of Nephrology 32 (6), S. 1498-1512.
Volltext nicht vorhanden.
2018
Schlingmann, Karl P.,
Bandulik, Sascha,
Mammen, Cherry,
Tarailo-Graovac, Maja ,
Holm, Rikke,
Baumann, Matthias,
König, Jens,
Lee, Jessica J. Y.,
Drögemöller, Britt ,
Imminger, Katrin,
Beck, Bodo B.,
Altmüller, Janine,
Thiele, Holger,
Waldegger, Siegfried,
van’t Hoff, William,
Kleta, Robert,
Warth, Richard ,
van Karnebeek, Clara D. M.,
Vilsen, Bente ,
Bockenhauer, Detlef und
Konrad, Martin
(2018)
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
The American Journal of Human Genetics 103 (5), S. 808-816.
Volltext nicht vorhanden.
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.
2016
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.
2014
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.
Diese Liste wurde erzeugt am Thu Apr 25 01:49:03 2024 CEST.