-
1Academic Journal
المؤلفون: Schneider, R., Deutsch, K., Hoeprich, G.J., Marquez, J., Hermle, T., Braun, D.A., Seltzsam, S., Kitzler, T.M., Mao, Y., Buerger, F., Majmundar, A.J., Onuchic-Whitford, A.C., Kolvenbach, C.M., Schierbaum, L., Schneider, S., Halawi, A.A., Nakayama, M., Mann, N., Connaughton, D.M., Klämbt, V., Wagner, M., Riedhammer, K.M., Renders, L., Katsura, Y., Thumkeo, D., Soliman, N.A., Mane, S., Lifton, R.P., Shril, S., Khokha, M.K., Hoefele, J., Goode, B.L., Hildebrandt, F.
المصدر: Am. J. Hum. Genet. 107, 1113-1128 (2020)
مصطلحات موضوعية: Actin Cytoskeleton, Daam2, Formins, Monogenic Kidney Diseases, Podocytopathy, Steroid-resistant Nephrotic Syndrome
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000596042000007; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/altIdentifier/pissn/0002-9297; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60786; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
-
2Electronic Resource
المؤلفون: Klämbt, V., Buerger, F., Wang, C., Naert, T., Richter, K., Nauth, T., Weiss, A.C., Sieckmann, T., Lai, E., Connaughton, D.M., Seltzsam, S., Mann, N., Majmundar, A.J., Wu, C.W., Onuchic-Whitford, A.C., Shril, S., Schneider, S., Schierbaum, L., Dai, R., Bekheirnia, M.R., Joosten, Marieke, Shlomovitz, O., Vivante, A., Banne, E., Mane, S., Lifton, R.P., Kirschner, K.M., Kispert, A., Rosenberger, G., Fischer, K.D., Lienkamp, S.S., Zegers, M.M.P., Hildebrandt, F.
المصدر: Journal of the American Society of Nephrology; 273; 290; 1046-6673; 2; 34; ~Journal of the American Society of Nephrology~273~290~~~1046-6673~2~34~~
-
3Academic Journal
المؤلفون: Klämbt, V., Werth, M., Onuchic-Whitford, A.C., Getwan, M., Kitzler, T.M., Buerger, F., Mao, Y., Deutsch, K., Mann, N., Majmundar, A.J., Kaminski, M.M., Shen, Tian, Schmidt-Ott, K.M., Shalaby, M., El Desoky, S., Kari, J.A., Shril, S., Lienkamp, S.S., Barasch, J., Hildebrandt, F.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases
Relation: Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Klämbt, V. and Werth, M. and Onuchic-Whitford, A.C. and Getwan, M. and Kitzler, T.M. and Buerger, F. and Mao, Y. and Deutsch, K. and Mann, N. and Majmundar, A.J. and Kaminski, M.M. and Shen, Tian and Schmidt-Ott, K.M. and Shalaby, M. and El Desoky, S. and Kari, J.A. and Shril, S. and Lienkamp, S.S. and Barasch, J. and Hildebrandt, F. Nephrology Dialysis Transplantation 36 (2): 237-246. February 2021
-
4Academic Journal
المؤلفون: Weng, P.L., Majmundar, A.J., Khan, K., Lim, T.Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D.F., Aggarwal, V.S., Bier, L.E., Heinzen, E.L., Onuchic-Whitford, A.C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T.M., Klämbt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B.B., Altmüller, J., Benz, M.R., Yano, S., Mikati, M.A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., AbuMaziad, A.S., Martinez-Agosto, J.A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A.V., Parboosingh, J.S., Innes, A.M., Bierzynska, A., Koziell, A.B., Muorah, M., Saleem, M.A., Hoefele, J., Riedhammer, K.M., Gharavi, A.G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E.G., O'Donnell-Luria, A., Rehm, H.L., Mane, S., D'Agati, V.D., Pollak, M.R., Ghiggeri, G.M., Lifton, R.P., Goldstein, D.B., Davis, E.E., Hildebrandt, F., Sanna-Cherchi, S.
مصطلحات موضوعية: Technology Platforms
Relation: De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Weng, P.L. and Majmundar, A.J. and Khan, K. and Lim, T.Y. and Shril, S. and Jin, G. and Musgrove, J. and Wang, M. and Ahram, D.F. and Aggarwal, V.S. and Bier, L.E. and Heinzen, E.L. and Onuchic-Whitford, A.C. and Mann, N. and Buerger, F. and Schneider, R. and Deutsch, K. and Kitzler, T.M. and Klämbt, V. and Kolb, A. and Mao, Y. and Moufawad El Achkar, C. and Mitrotti, A. and Martino, J. and Beck, B.B. and Altmüller, J. and Benz, M.R. and Yano, S. and Mikati, M.A. and Gunduz, T. and Cope, H. and Shashi, V. and Trachtman, H. and Bodria, M. and Caridi, G. and Pisani, I. and Fiaccadori, E. and AbuMaziad, A.S. and Martinez-Agosto, J.A. and Yadin, O. and Zuckerman, J. and Kim, A. and John-Kroegel, U. and Tyndall, A.V. and Parboosingh, J.S. and Innes, A.M. and Bierzynska, A. and Koziell, A.B. and Muorah, M. and Saleem, M.A. and Hoefele, J. and Riedhammer, K.M. and Gharavi, A.G. and Jobanputra, V. and Pierce-Hoffman, E. and Seaby, E.G. and O'Donnell-Luria, A. and Rehm, H.L. and Mane, S. and D'Agati, V.D. and Pollak, M.R. and Ghiggeri, G.M. and Lifton, R.P. and Goldstein, D.B. and Davis, E.E. and Hildebrandt, F. and Sanna-Cherchi, S. American Journal of Human Genetics 108 (2): 357-367. 4 February 2021
-
5Electronic Resource
المؤلفون: Connaughton, D.M., Dai, R., Owen, D.J., Marquez, J., Mann, N., Graham-Paquin, A.L., Nakayama, M., Coyaud, E., Laurent, E.M.N., St-Germain, J.R., Snijders-Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C.H.W., Kolvenbach, C.M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T.M., Majmundar, A.J., Buerger, F., Onuchic-Whitford, A.C., Youying, M., Kolb, A., Salmanullah, D., Chen, E., Ven, A.T. van der, Rao, J., Ityel, H., Seltzsam, S., Rieke, J.M., Chen, J., Vivante, A., Hwang, D.Y., Kohl, S., Dworschak, G.C., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S.T., Baum, M.A., Brilstra, E.H., Challman, T.D., Zyskind, J., Costin, C.E., Dipple, K.M., Duijkers, F.A., Ferguson, M., Fitzpatrick, D.R., Fick, R., Glass, I.A., Hulick, P.J., Kline, A.D., Krey, I., Kumar, S., Lu, W., Marco, E.J., Wentzensen, I.M., Fisher, S.E., Bouchard, M., Khokha, M.K., Shril, S., Hildebrandt, F.
المصدر: American Journal of Human Genetics; 727; 742; 0002-9297; 4; vol. 107; ~American Journal of Human Genetics~727~742~~~0002-9297~4~107~~
-
6Academic Journal
المؤلفون: Braun, D.A., Warejko, J.K., Ashraf, S., Tan, W., Daga, A., Schneider, R., Hermle, T., Jobst-Schwan, T., Widmeier, E., Majmundar, A.J., Nakayama, M., Schapiro, D., Rao, J., Schmidt, J.M., Hoogstraten, C.A., Hugo, H., Bakkaloglu, S.A., Kari, J.A., Desoky, S. El, Daouk, G., Mane, S., Lifton, R.P., Shril, S., Hildebrandt, F.
المصدر: Nephrology, Dialysis, Transplantation, 34, 3, pp. 485-493
-
7Academic Journal
المؤلفون: Jobst-Schwan, T., Hoogstraten, C.A., Kolvenbach, C.M., Schmidt, J.M., Kolb, A., Eddy, K., Schneider, R., Ashraf, S., Widmeier, E., Majmundar, A.J., Hildebrandt, F.
المصدر: Kidney International, 95, 5, pp. 1079-1090
-
8Academic Journal
المؤلفون: Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmuller, J., Noegel, A.A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaroglu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nurnberg, P., Khokha, M.K., Hildebrandt, F.
المصدر: Journal of Clinical Investigation, 128, 10, pp. 4313-4328
مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences
Relation: http://hdl.handle.net/2066/196786
-
9Academic Journal
المؤلفون: Ven, A.T. van der, Connaughton, D.M., Ityel, H., Mann, N., Nakayama, M., Chen, J., Vivante, A., Hwang, D.Y., Schulz, J, Braun, D.A., Schmidt, J.M., Schapiro, D., Schneider, R., Warejko, J.K., Daga, A., Majmundar, A.J., Tan, W., Jobst-Schwan, T., Hermle, T., Widmeier, E., Ashraf, S., Amar, A., Hoogstraten, C.A., Hugo, H., Kitzler, T.M., Kause, F., Kolvenbach, C.M., Dai, R., Spaneas, L., Amann, K., Stein, D.R., Baum, M.A., Somers, M.J.G., Rodig, N.M., Ferguson, M.A., Traum, A.Z., Daouk, G.H., Bogdanovic, R., Stajic, N., Soliman, N.A., Kari, J.A., Desoky, S. El, Fathy, H.M., Milosevic, D., Al-Saffar, M., Awad, H.S., Eid, L.A., Selvin, A., Senguttuvan, P., Sanna-Cherchi, S., Rehm, H.L., MacArthur, D.G., Lek, M., Laricchia, K.M., Wilson, M.W., Mane, S.M., Lifton, R.P., Lee, R.S., Bauer, S.B., Lu, W., Reutter, H.M., Tasic, V., Shril, S., Hildebrandt, F.
المصدر: Journal of the American Society of Nephrology, 29, 9, pp. 2348-2361
مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences
Relation: http://hdl.handle.net/2066/200746
-
10Academic Journal
المؤلفون: Braun, D.A., Shril, S., Sinha, A., Schneider, R., Tan, W., Ashraf, S., Hermle, T., Jobst-Schwan, T., Widmeier, E., Majmundar, A.J., Daga, A., Warejko, J.K., Nakayama, M., Schapiro, D., Chen, J., Airik, M., Rao, J., Schmidt, J.M., Hoogstraten, C.A., Hugo, H., Meena, J., Lek, M., Laricchia, K.M., Bagga, A., Hildebrandt, F.
المصدر: American Journal of Medical Genetics. Part A, 176, 11, pp. 2460-2465
-
11Academic Journal
المؤلفون: Jobst-Schwan, T., Schmidt, J.M., Schneider, R., Hoogstraten, C.A., Ullmann, J.F., Schapiro, D., Majmundar, A.J., Kolb, A., Eddy, K., Shril, S., Braun, D.A., Poduri, A., Hildebrandt, F.
المصدر: PLoS One, 13, 1
مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/191338/191338.pdf; http://hdl.handle.net/2066/191338; https://doi.org/10.1371/journal.pone.0191503
Full Text Finder