المؤلفون: Elhassan, Elhussein A.E., Kmochová, Tereza, Benson, Katherine A., Fennelly, Neil K., Barešová, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M., Kyne, Niamh C., Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Sovová, Jana, Mušálková, Dita, Vrbacká, Alena, Přistoupilová, Anna, Živný, Jan, Svojšová, Klára, Radina, Martin, Stránecký, Viktor, Loginov, Dmitry, Pompach, Petr, Novák, Petr, Vaníčková, Zdislava, Hansíková, Hana, Rajnochová-Bloudíčková, Silvie, Viklický, Ondřej, Hůlková, Helena, Cavalleri, Gianpiero L., Hnízda, Aleš, Bleyer, Anthony, Kmoch, Stanislav, Conlon, Peter J., Živná, Martina

المساهمون: Technology Agency of the Czech Republic, MEYS CR, Ministry of Health of the Czech Republic

المصدر: Kidney International Reports ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2024.04.031Test
https://api.elsevier.com/content/article/PII:S2468024924016541?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024924016541?httpAccept=text/plainTest

المؤلفون: Elhassan, Elhussein A.E., O'Kelly, Patrick, Collins, Kane E., Teltsh, Omri, Ciurli, Francesca, Murray, Susan L., Kennedy, Claire, Madden, Stephen F., Benson, Katherine A., Cavalleri, Gianpiero L., Conlon, Peter J.

المساهمون: Irish Nephrology Society, RCSI University of Medicine and Health Sciences, Science Foundation Ireland, Irish Research Council, BioMarin Pharmaceutical, Health Research Board

المصدر: Kidney International Reports ; volume 9, issue 3, page 649-660 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2023.12.002Test
https://api.elsevier.com/content/article/PII:S2468024923016248?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024923016248?httpAccept=text/plainTest

المؤلفون: Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F, Jacobsen, Julius Ob, Arno, Gavin, Behr, Elijah R, Benson, Katherine A, Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R, Burley, Kate, Chan, Li F, Chinnery, Patrick, Conlon, Peter, Costa, Marcos, Davidson, Alice E, Dawson, Sally J, Elhassan, Elhussein, Flanagan, Sarah E, Futema, Marta, Gale, Daniel P, García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R, Hambleton, Sophie, Hicks, Amy R, Houlden, Henry, Houlston, Richard S, Howles, Sarah A, Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah, Morsy, Heba, Mumford, Andrew D, Newman, William G, Neatu, Ruxandra, O'Toole, Edel A, Ong, Albert Cm, Pagnamenta, Alistair T, Rahman, Shamima, Rajan, Neil, Robinson, Peter N, Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A, Shovlin, Claire L, Taylor, Jenny C, Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M, Ware, James S, Watts, Laura M, Webster, Andrew R, Westbury, Sarah K, Zheng, Sean L, Caulfield, Mark, Smedley, Damian

المصدر: medRxiv (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10185489/1/2023%20Cipriani%20100K%20Gene%20burden%20MedRXiv.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10185489Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10185489/1/2023%20Cipriani%20100K%20Gene%20burden%20MedRXiv.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10185489Test/

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

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, UCL - (SLuc) Institut des maladies rares

المصدر: Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, no. 33, p. e2114734119 [1-11] (2022)

مصطلحات موضوعية: Autosomal Dominant Tubulointerstitial Kidney Disease, ER stress, genetic architecture, rare disease, uromodulin

العلاقة: boreal:276660; http://hdl.handle.net/2078.1/276660Test; urn:ISSN:0027-8424; urn:EISSN:1091-6490

الإتاحة: https://doi.org/10.1073/pnas.2114734119Test
http://hdl.handle.net/2078.1/276660Test

المؤلفون: Elhassan, Elhussein A. E., Murray, Susan L., Connaughton, Dervla M., Kennedy, Claire, Cormican, Sarah, Cowhig, Cliona, Stapleton, Caragh, Little, Mark A., Kidd, Kendrah, Bleyer, Anthony J., Živná, Martina, Kmoch, Stanislav, Fennelly, Neil K., Doyle, Brendan, Dorman, Anthony, Griffin, Matthew D., Casserly, Liam, Harris, Peter C., Hildebrandt, Friedhelm, Cavalleri, Gianpiero L., Benson, Katherine A., Conlon, Peter J.

المساهمون: Punchestown Kidney Research Fund, the Irish Kidney association/Health Research Board under the HRCI-HRB Joint funding scheme, Royal College of Surgeons in Ireland

المصدر: Journal of Nephrology ; volume 35, issue 6, page 1655-1665 ; ISSN 1724-6059

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1007/s40620-021-01236-2Test

المؤلفون: Benson, Katherine A., Murray, Susan L., Senum, Sarah R., Elhassan, Elhussein, Conlon, Eoin T., Kennedy, Claire, Conlon, Shane, Gilbert, Edmund, Connaughton, Dervla, O’Hara, Paul, Khamis, Sarah, Cormican, Sarah, Brody, Lawrence C., Molloy, Anne M., Lynch, Sally Ann, Casserly, Liam, Griffin, Matthew D., Carton, Robert, Yachnin, Kevin, Harris, Peter C., Cavalleri, Gianpiero L., Conlon, Peter

المساهمون: Wellcome Trust

المصدر: European Journal of Human Genetics ; volume 29, issue 5, page 827-838 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-020-00806-5Test
https://www.nature.com/articles/s41431-020-00806-5.pdfTest
https://www.nature.com/articles/s41431-020-00806-5Test

المؤلفون: Collins, Kane E., Gilbert, Edmund, Mauduit, Vincent, Benson, Katherine A., Elhassan, Elhussein A. E., O’Seaghdha, Conall, Hill, Claire, McKnight, Amy Jayne, Maxwell, Alexander P., van der Most, Peter J., de Borst, Martin H., Guan, Weihua, Jacobson, Pamala A., Israni, Ajay K., Keating, Brendan J., Lord, Graham M., Markkinen, Salla, Helanterä, Ilkka, Hyvärinen, Kati, Partanen, Jukka, Madden, Stephen F., Limou, Sophie, Cavalleri, Gianpiero L., Conlon, Peter J.

المصدر: Journal of Nephrology; 20240101, Issue: Preprints p1-10, 10p

المؤلفون: Elhassan, Elhussein, Kmochova, Tereza, Benson, Katherine, Kidd, Kendrah, Fennelly, Neil, Dorman, Anthony, HnÍzda, Aleš, Bleyer, Anthony, Zivna, Martina, Kmoch, Stanislav, Conlon, Peter

المصدر: Nephrology Dialysis Transplantation ; volume 38, issue Supplement_1 ; ISSN 0931-0509 1460-2385

مصطلحات موضوعية: Transplantation, Nephrology

الإتاحة: https://doi.org/10.1093/ndt/gfad063b_4410Test
https://academic.oup.com/ndt/article-pdf/38/Supplement_1/gfad063b_4410/50674824/gfad063b_4410.pdfTest

المؤلفون: Mcanallen, Susan, Elhassan, Elhussein, Green, Andrew, Morrison, Patrick, Magee, Colm, Conlon, Peter

المصدر: Nephrology Dialysis Transplantation ; volume 38, issue Supplement_1 ; ISSN 0931-0509 1460-2385

مصطلحات موضوعية: Transplantation, Nephrology

الإتاحة: https://doi.org/10.1093/ndt/gfad063d_3697Test
https://academic.oup.com/ndt/article-pdf/38/Supplement_1/gfad063d_3697/50675910/gfad063d_3697.pdfTest

المؤلفون: Michelle, Clince, Elhassan, Elhussein, Bleyer, Anthony, Mcanallen, Susan, Kidd, Kendrah, Conlon, Peter

المصدر: Nephrology Dialysis Transplantation ; volume 38, issue Supplement_1 ; ISSN 0931-0509 1460-2385

مصطلحات موضوعية: Transplantation, Nephrology

الإتاحة: https://doi.org/10.1093/ndt/gfad063c_3023Test
https://academic.oup.com/ndt/article-pdf/38/Supplement_1/gfad063c_3023/50674995/gfad063c_3023.pdfTest