Anzahl der Einträge: 9.
Meindl, Katrin ![ORCID 0000-0001-5252-7654](/images/orcid_16x16.gif)
,
Issler, Naomi,
Afonso, Sara Cerqueira,
Cebrian-Serrano, Alberto,
Müller-Decker, Karin,
Sterner, Christina,
Othmen, Helga,
Tegtmeier, Ines,
Witzgall, Ralph ![ORCID 0000-0002-5283-4846](/images/orcid_16x16.gif)
,
Klootwijk, Enriko D.,
Davies, Benjamin,
Kleta, Robert und
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
(2023)
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.
Frontiers in Cell and Developmental Biology 11.
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 ![ORCID 0000-0001-8867-455X](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-1613-2000](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology 33 (4), S. 732-745.
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 ![ORCID 0000-0001-8867-455X](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-1613-2000](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology 33.
Volltext nicht vorhanden.
Schlingmann, Karl P.,
Renigunta, Aparna,
Hoorn, Ewout J.,
Forst, Anna-Lena,
Renigunta, Vijay,
Atanasov, Velko,
Mahendran, Sinthura,
Barakat, Tahsin Stefan ![ORCID 0000-0003-1231-1562](/images/orcid_16x16.gif)
,
Gillion, Valentine,
Godefroid, Nathalie,
Brooks, Alice S.,
Lugtenberg, Dorien,
Lake, Jennifer ![ORCID 0000-0002-9617-7438](/images/orcid_16x16.gif)
,
Debaix, Huguette,
Rudin, Christoph,
Knebelmann, Bertrand,
Tellier, Stephanie,
Rousset-Rouvière, Caroline,
Viering, Daan,
de Baaij, Jeroen H. F. ![ORCID 0000-0003-2372-8486](/images/orcid_16x16.gif)
,
Weber, Stefanie,
Palygin, Oleg ![ORCID 0000-0002-3680-5527](/images/orcid_16x16.gif)
,
Staruschenko, Alexander,
Kleta, Robert,
Houillier, Pascal,
Bockenhauer, Detlef,
Devuyst, Olivier,
Vargas-Poussou, Rosa,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
,
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.
Schlingmann, Karl P.,
Bandulik, Sascha,
Mammen, Cherry,
Tarailo-Graovac, Maja ![ORCID 0000-0002-4472-8584](/images/orcid_16x16.gif)
,
Holm, Rikke,
Baumann, Matthias,
König, Jens,
Lee, Jessica J. Y.,
Drögemöller, Britt ![ORCID 0000-0002-3348-5855](/images/orcid_16x16.gif)
,
Imminger, Katrin,
Beck, Bodo B.,
Altmüller, Janine,
Thiele, Holger,
Waldegger, Siegfried,
van’t Hoff, William,
Kleta, Robert,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
,
van Karnebeek, Clara D. M.,
Vilsen, Bente ![ORCID 0000-0002-4727-9382](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-6098-3991](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-4181-2676](/images/orcid_16x16.gif)
,
Jaureguiberry, Graciana,
Issler, Naomi,
Kesselheim, Anne,
Walsh, Stephen B.,
Gale, Daniel P. ![ORCID 0000-0002-9170-1579](/images/orcid_16x16.gif)
,
Howie, Alexander J.,
Martins, Joana R. ![ORCID 0000-0002-3784-9775](/images/orcid_16x16.gif)
,
Hall, Andrew M.,
Kasgharian, Michael,
O’Brien, Kevin,
Ferreira, Carlos R.,
Atwal, Paldeep S.,
Jain, Mahim,
Hammers, Alexander ![ORCID 0000-0001-9530-4848](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
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.
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