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  1. Treimer, Ernestine [Author]; Kalayci, Tugba [Author]; Schumann, Sven [Author]; Suer, Ilknur [Author]; Greco, Sara [Author]; Schanze, Denny [Author]; Schmeißer, Michael Joachim [Author]; Kühl, Susanne [Author]; Zenker, Martin [Author]

    Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome

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    2022

    Published in: Human mutation ; 43(2022), 12, Seite 1866-1871

  2. Mann, Nina; Mzoughi, Slim; Schneider, Ronen; Kühl, Susanne J.; Schanze, Denny; Klämbt, Verena; Lovric, Svjetlana; Mao, Youying; Shi, Shasha; Tan, Weizhen; Kühl, Michael; Onuchic-Whitford, Ana C.; Treimer, Ernestine; Kitzler, Thomas M.; Kause, Franziska; Schumann, Sven; Nakayama, Makiko; Buerger, Florian; Shril, Shirlee; van der Ven, Amelie T.; Majmundar, Amar J.; Holton, Kristina Marie; Kolb, Amy; Braun, Daniela A.; [...]

    Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

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    Ovid Technologies (Wolters Kluwer Health), 2021

    Published in: Journal of the American Society of Nephrology