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Material Type: Artigo
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DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationSchneider, Ronen ; Deutsch, Konstantin ; Hoeprich, Gregory J. ; Marquez, Jonathan ; Hermle, Tobias ; Braun, Daniela A. ; Seltzsam, Steve ; Kitzler, Thomas M. ; Mao, Youying ; Buerger, Florian ; Majmundar, Amar J. ; Onuchic-Whitford, Ana C. ; Kolvenbach, Caroline M. ; Schierbaum, Luca ; Schneider, Sophia ; Halawi, Abdul A. ; Nakayama, Makiko ; Mann, Nina ; Connaughton, Dervla M. ; Klämbt, Verena ; Wagner, Matias ; Riedhammer, Korbinian M. ; Renders, Lutz ; Katsura, Yoshichika ; Thumkeo, Dean ; Soliman, Neveen A. ; Mane, Shrikant ; Lifton, Richard P. ; Shril, Shirlee ; Khokha, Mustafa K. ; Hoefele, Julia ; Goode, Bruce L. ; Hildebrandt, FriedhelmAmerican journal of human genetics, 2020-12, Vol.107 (6), p.1113-1128 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisWeng, Patricia L. ; Majmundar, Amar J. ; Khan, Kamal ; Lim, Tze Y. ; Shril, Shirlee ; Jin, Gina ; Musgrove, John ; Wang, Minxian ; Ahram, Dina F. ; Aggarwal, Vimla S. ; Bier, Louise E. ; Heinzen, Erin L. ; Onuchic-Whitford, Ana C. ; Mann, Nina ; Buerger, Florian ; Schneider, Ronen ; Deutsch, Konstantin ; Kitzler, Thomas M. ; Klämbt, Verena ; Kolb, Amy ; Mao, Youying ; Moufawad El Achkar, Christelle ; Mitrotti, Adele ; Martino, Jeremiah ; Beck, Bodo B. ; Altmüller, Janine ; Benz, Marcus R. ; Yano, Shoji ; Mikati, Mohamad A. ; Gunduz, Talha ; Cope, Heidi ; Shashi, Vandana ; Trachtman, Howard ; Bodria, Monica ; Caridi, Gianluca ; Pisani, Isabella ; Fiaccadori, Enrico ; AbuMaziad, Asmaa S. ; Martinez-Agosto, Julian A. ; Yadin, Ora ; Zuckerman, Jonathan ; Kim, Arang ; John-Kroegel, Ulrike ; Tyndall, Amanda V. ; Parboosingh, Jillian S. ; Innes, A. Micheil ; Bierzynska, Agnieszka ; Koziell, Ania B. ; Muorah, Mordi ; Saleem, Moin A. ; Hoefele, Julia ; Riedhammer, Korbinian M. ; Gharavi, Ali G. ; Jobanputra, Vaidehi ; Pierce-Hoffman, Emma ; Seaby, Eleanor G. ; O’Donnell-Luria, Anne ; Rehm, Heidi L. ; Mane, Shrikant ; D’Agati, Vivette D. ; Pollak, Martin R. ; Ghiggeri, Gian Marco ; Lifton, Richard P. ; Goldstein, David B. ; Davis, Erica E. ; Hildebrandt, Friedhelm ; Sanna-Cherchi, SimoneAmerican journal of human genetics, 2021-02, Vol.108 (2), p.357-367 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |