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Jump to: 2021 | 2020 | 2014
Number of items: 3.

2021

Weng, 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 ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, 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 ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, 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 and Sanna-Cherchi, Simone (2021). De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am. J. Hum. Genet., 108 (2). S. 357 - 368. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

2020

Trautmann, Agnes, Vivarelli, Marina, Samuel, Susan, Gipson, Debbie, Sinha, Aditi, Schaefer, Franz, Hui, Ng Kar, Boyer, Olivia ORCID: 0000-0002-3957-1359, Saleem, Moin A., Feltran, Luciana, Mueller-Deile, Janina, Becker, Jan Ulrich ORCID: 0000-0003-2929-8085, Cano, Francisco, Xu, Hong, Lim, Yam Ngo, Smoyer, William, Anochie, Ifeoma, Nakanishi, Koichi, Hodson, Elisabeth and Haffner, Dieter (2020). IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Pediatr. Nephrol., 35 (8). S. 1529 - 1562. NEW YORK: SPRINGER. ISSN 1432-198X

2014

Dettmar, Anne K., Binder, Elisabeth, Greiner, Friederike R., Liebau, Max C., Kurschat, Christine E., Jungraithmayr, Therese C., Saleem, Moin A., Schmitt, Claus-Peter, Feifel, Elisabeth, Orth-Hoeller, Dorothea, Kemper, Markus J., Pepys, Mark, Wuerzner, Reinhard and Oh, Jun (2014). Protection of Human Podocytes from Shiga Toxin 2-Induced Phosphorylation of Mitogen-Activated Protein Kinases and Apoptosis by Human Serum Amyloid P Component. Infect. Immun., 82 (5). S. 1872 - 1880. WASHINGTON: AMER SOC MICROBIOLOGY. ISSN 1098-5522

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