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Meindl, Katrin, Issler, Naomi, Afonso, Sara Cerqueira, Cebrian-Serrano, Alberto, Müller-Decker, Karin, Sterner, Christina, Othmen, Helga, Tegtmeier, Ines, Witzgall, Ralph, Klootwijk, Enriko D., Davies, Benjamin, Kleta, Robert and Warth, Richard
(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
, 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. and Warth, Richard
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology 33 (4), pp. 732-745.
, 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. and Warth, Richard
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
UNSPECIFIED, Universität Regensburg.
Fulltext not available.
, 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
and Kleta, Robert
(2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Journal of the American Society of Nephrology 29 (7), pp. 1849-1858.
Fulltext not available.
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