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المؤلفون: Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A E, Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G, Kistler, Andreas D, Wilson, Ian J, Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Genomics England Research Consortium, Eckardt, Kai-Uwe, Bleyer, Anthony J, Köttgen, Anna, Conlon, Peter J, Wiesener, Michael, Sayer, John A, Rampoldi, Luca, Devuyst, Olivier
المساهمون: University of Zurich
مصطلحات موضوعية: 570 Life sciences, biology, 610 Medicine & health, 10052 Institute of Physiology
وصف الملف: pnas.202114734.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::781e098497c9544b59ecf8355eebed57Test
https://doi.org/10.5167/uzh-226492Test -
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المؤلفون: Olinger, Eric, Wilson, Ian, Devuyst, Olivier, Sayer, John A
المساهمون: University of Zurich
مصطلحات موضوعية: Nephrology, 570 Life sciences, biology, 610 Medicine & health, 10052 Institute of Physiology
وصف الملف: 1-s2.0-S0085253822000199-main.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______885::48c834c3d7cd0c8e0b39ad33d70f939aTest
https://doi.org/10.5167/uzh-212721Test -
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المؤلفون: Devuyst, Olivier, Bochud, Murielle, Olinger, Eric
المساهمون: University of Zurich, Devuyst, Olivier
المصدر: Pflugers Archiv : European journal of physiology. 474(8)
مصطلحات موضوعية: Physiology, Clinical Biochemistry, 610 Medicine & health, 1314 Physiology, 1308 Clinical Biochemistry, Kidney, 10052 Institute of Physiology, 2737 Physiology (medical), Physiology (medical), Uromodulin, 570 Life sciences, biology, Humans, Kidney Diseases, Renal Insufficiency, Chronic
وصف الملف: 424_2022_Article_2733.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a528449bcf6cd5a87bbea4f6e5727bTest
https://pubmed.ncbi.nlm.nih.gov/35881244Test -
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المؤلفون: Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A. E., Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G., Kistler, Andreas D., Wilson, Ian J., Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Anthony J., Köttgen, Anna, Conlon, Peter J., Wiesener, Michael, Sayer, John A., Rampoldi, Luca, Devuyst, Olivier, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M.A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O’Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M.
المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie
المصدر: Proceedings of the National Academy of Sciences, Vol. 119, no.33, p. 1-11 (2022)
Olinger, Eric; Schaeffer, Céline; Kidd, Kendrah; Elhassan, Elhussein A. E.; Cheng, Yurong; Dufour, Inès; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G.; Kistler, Andreas D.; Wilson, Ian J.; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J.; Köttgen, Anna; Conlon, Peter J.; ... (2022). An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America-PNAS, 119(33), e2114734119. National Academy of Sciences NAS 10.1073/pnas.2114734119 <http://dx.doi.org/10.1073/pnas.2114734119Test>مصطلحات موضوعية: Multidisciplinary, uromodulin, rare disease, 610 Medicine & health, Autosomal Dominant Tubulointerstitial Kidney Disease, ER stress, genetic architecture
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9992b5b7be10b4291c032c2b67526611Test
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المؤلفون: Claus, Laura R., Stallworth, Jennifer, Van Jaarsveld, Richard H., Louie, Ray, Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Ziegler, Alban, Barakat, Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Larsen, Martin J., Hertz, Jens Michael, Lilien, Marc, Olinger, Eric, Sayer, John A., Rogers, Curtis, Duran, Karen J., Peters, Edith Dj, Van Haaften, Gijs, Steet, Richard, Van Eerde, Albertien M.
المصدر: Claus, L R, Stallworth, J, Van Jaarsveld, R H, Louie, R, Silver, J, Lerner-Ellis, J, Morel, C, Mighton, C, Ziegler, A, Barakat, S, Dahan, K, Demoulin, N, Goffin, E, Larsen, M J, Hertz, J M, Lilien, M, Olinger, E, Sayer, J A, Rogers, C, Duran, K J, Peters, E D, Van Haaften, G, Steet, R & Van Eerde, A M 2021, ' HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY ', Pediatric Nephrology, vol. 36, no. 10, OP-36, pp. 3299-3300 . < https://link.springer.com/article/10.1007/s00467-021-05210-9Test >
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3062::1e7a4d8a6b2d6798e0bd5f3c9e54b574Test
https://link.springer.com/article/10.1007/s00467-021-05210-9Test -
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المؤلفون: Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C, Calado, Joaquim, Torres, Rosa J, Lhotta, Karl, Steubl, Dominik, Gale, Daniel P, Gast, Christine, Gombos, Eva, Ainsworth, Hannah C, Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J, Murray, Susan L, Benson, Katherine A, Cavalleri, Gianpiero L, et al, Devuyst, Olivier
المساهمون: University of Zurich
مصطلحات موضوعية: 2727 Nephrology, Nephrology, 570 Life sciences, biology, 610 Medicine & health, 10052 Institute of Physiology
وصف الملف: main.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______885::d0364d6455a8e34cc04ce534a59673ecTest
https://doi.org/10.5167/uzh-196982Test -
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المؤلفون: Olinger, Eric Gregory
المساهمون: University of Zurich, Olinger, Eric Gregory
مصطلحات موضوعية: UZHDISS UZH Dissertations, 570 Life sciences, biology, 610 Medicine & health, 10052 Institute of Physiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______885::f40c6053a052c5a732d95c1704879d4fTest
https://doi.org/10.5167/uzh-169487Test -
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المؤلفون: Stanisich, Jessica J., Zyla, Dawid S., Afanasyev, Pavel, Xu, Jingwei, Kipp, Anne, Olinger, Eric, Pilhofer, Martin, Boehringer, Daniel, Glockshuber, Rudi
المصدر: eLife, 9
مصطلحات موضوعية: macromolecular substances
وصف الملف: application/application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______150::dd90a12eb5d2012ac850ed11f859baa8Test
https://hdl.handle.net/20.500.11850/441107Test -
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المؤلفون: Schiano, Guglielmo, Glaudemans, Bob, Olinger, Eric, Goelz, Nadine, Müller, Michael, Loffing-Cueni, Dominique, Deschenes, Georges, Loffing, Johannes, Devuyst, Olivier
المساهمون: University of Zurich, Devuyst, Olivier
المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)مصطلحات موضوعية: Male, 10017 Institute of Anatomy, Immunoblotting, lcsh:Medicine, 610 Medicine & health, Article, 10052 Institute of Physiology, Mice, Uromodulin, Animals, Potassium Channels, Inwardly Rectifying, lcsh:Science, Cells, Cultured, Solute Carrier Family 12, Member 1, Mice, Knockout, 1000 Multidisciplinary, Multidisciplinary, urogenital system, lcsh:R, Bartter Syndrome, Nephrons, Nephrology, Mutation, Loop of Henle, 570 Life sciences, biology, lcsh:Q, Glyceraldehyde-3-Phosphate Dehydrogenase (Phosphorylating)
وصف الملف: 41598_2019_Article_55771.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4a3df258c4e194b6c4f52a868f3a802aTest
https://pubmed.ncbi.nlm.nih.gov/31863061Test -
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المؤلفون: Hadj-Rabia, Smail, Brideau, Gaelle, Olinger, Eric, Vargas-Poussou, Rosa, Bodemer, Christine, Devuyst, Olivier, et al
المساهمون: University of Zurich, Hadj-Rabia, Smail
مصطلحات موضوعية: 2716 Genetics (clinical), 570 Life sciences, biology, 610 Medicine & health, 10052 Institute of Physiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______885::896846e9d02be2496205fff6b5705aa8Test
https://www.zora.uzh.ch/id/eprint/148498Test/