المؤلفون: Vylet’al, Petr, Kidd, Kendrah, Ainsworth, Hannah C., Springer, Drahomíra, Vrbacká, Alena, Přistoupilová, Anna, Hughey, Rebecca P., Alper, Seth L., Lennon, Niall, Harrison, Steven, Harden, Maegan, Robins, Victoria, Taylor, Abbigail, Martin, Lauren, Howard, Katrice, Bitar, Ibrahim, Langefeld, Carl D., Barešová, Veronika, Hartmannová, Hana, Hodaňová, Kateřina, Zima, Tomáš, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J.

المصدر: American Journal of Nephrology ; volume 52, issue 5, page 378-387 ; ISSN 0250-8095 1421-9670

الإتاحة: https://doi.org/10.1159/000515810Test
https://www.karger.com/Article/Pdf/515810Test

المؤلفون: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J

المصدر: Nature Genetics. 45(3)

مصطلحات موضوعية: Biotechnology, Kidney Disease, Genetics, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Cytosine, Female, Genetic Linkage, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Male, Minisatellite Repeats, Mucin-1, Mutation, Polycystic Kidney, Autosomal Dominant, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1bm699hcTest

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, Devuyst, Olivier

المصدر: 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; et al (2020). Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. ....

مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health, Nephrology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/196982/1/main.pdfTest; info:pmid/32954071; urn:issn:2468-0249

الإتاحة: https://doi.org/10.5167/uzh-19698210.1016/j.ekir.2020.06.029Test
https://www.zora.uzh.ch/id/eprint/196982Test/
https://www.zora.uzh.ch/id/eprint/196982/1/main.pdfTest

المؤلفون: Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, VAN HEMELRIJK, CHRISTINE, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R, Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vylet'al, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J, Spong, Richard S, Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS ; ISSN: 0002-9297 ; ISSN: 1537-6605

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, ENDOPLASMIC-RETICULUM STRESS, DNA-SEQUENCING DATA, SIGNAL SEQUENCE, LINKAGE ANALYSIS, GENE MUTATION, ER STRESS, TRANSLOCATION, NEPHROPATHY, GENOME, PRONEPHROS

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8507636Test; http://hdl.handle.net/1854/LU-8507636Test; http://dx.doi.org/10.1016/j.ajhg.2016.05.028Test; https://biblio.ugent.be/publication/8507636/file/8507639Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.05.028Test
https://biblio.ugent.be/publication/8507636Test
http://hdl.handle.net/1854/LU-8507636Test
https://biblio.ugent.be/publication/8507636/file/8507639Test

المؤلفون: Ajit Bolar, Nikhita, Golzio, Christelle, Zivna, Martina, Hayot, Gaelle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Pristoupilova, Anna, Hodanova, Katerina, Vylet'al, Petr, Hartmannova, Hana, Stranecky, Viktor, Hulkova, Helena, Baresova, Veronika, Jedlickova, Ivana, Sovova, Jana, Hnizda, Ales, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart

المصدر: 0002-9297 ; The American journal of human genetics

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000381616600014

الإتاحة: https://doi.org/10.1016/J.AJHG.2016.05.028Test
https://hdl.handle.net/10067/1355750151162165141Test
https://repository.uantwerpen.be/docman/irua/8a5235/135575.pdfTest

المؤلفون: Vylet'al, Petr, Kidd, Kendrah, Ainsworth, Hannah C., Springer, Drahomíra, Vrbacká, Alena, Přistoupilová, Anna, Hughey, Rebecca P., Alper, Seth L., Lennon, Niall, Harrison, Steven, Harden, Maegan, Robins, Victoria, Taylor, Abbigail, Martin, Lauren, Howard, Katrice, Bitar, Ibrahim, Langefeld, Carl D., Barešová, Veronika, Hartmannová, Hana, Hodaňová, Kateřina, Zima, Tomáš, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J.

المصدر: Am J Nephrol

مصطلحات موضوعية: Patient-Oriented, Translational Research: Research Article, socio, envir

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8315672Test/

الإتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8315672Test/

المؤلفون: Bleyer, Anthony J., Kmoch, Stanislav, Antignac, Corinne, Robins, Vicki, Kidd, Kendrah, Kelsoe, John R., Hladik, Gerald, Klemmer, Philip, Knohl, Stephen J., Scheinman, Steven J., Vo, Nam, Santi, Ann, Harris, Alese, Canaday, Omar, Weller, Nelson, Hulick, Peter J., Vogel, Kristen, Rahbari-Oskoui, Frederick F., Tuazon, Jennifer, Deltas, Constantinos, Somers, Douglas, Megarbane, Andre, Kimmel, Paul L., Sperati, C. John, Orr-Urtreger, Avi, Ben-Shachar, Shay, Waugh, David A., McGinn, Stella, Hodaňová, Kateřina, Vylet'al, Petr, Živná, Martina, Hart, Thomas C., Hart, P. Suzanne

المصدر: Clinical Journal of the American Society of Nephrology ; volume 9, issue 3, page 527-535 ; ISSN 1555-9041

الإتاحة: https://doi.org/10.2215/cjn.06380613Test
https://journals.lww.com/01277230-201403000-00017Test

المؤلفون: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Baresova, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hulkova, Helena, Sovova, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey B., Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Daly, Mark J., Lander, Eric Steven

المساهمون: Massachusetts Institute of Technology. Department of Biology, Regev, Aviv, Lander, Eric S.

المصدر: Regev via Courtney Crummett

وصف الملف: application/pdf

العلاقة: http://dx.doi.org/10.1038/ng.2543Test; Nature Genetics; http://hdl.handle.net/1721.1/80712Test; Kirby, Andrew, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, et al. “Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.” Nature Genetics 45, no. 3 (February 10, 2013): 299-303.; orcid:0000-0001-8567-2049

الإتاحة: https://doi.org/10.1038/ng.2543Test
http://hdl.handle.net/1721.1/80712Test

المؤلفون: Živná, Martina, Hůlková, Helena, Matignon, Marie, Hodaňová, Kateřina, Vylet'al, Petr, Kalbáčová, Marie, Barešová, Veronika, Sikora, Jakub, Blažková, Hana, Živný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., Kmoch, Stanislav

المصدر: The American Journal of Human Genetics ; volume 85, issue 2, page 204-213 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2009.07.010Test
https://api.elsevier.com/content/article/PII:S0002929709003012?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929709003012?httpAccept=text/plainTest

المؤلفون: Stibůrková, Blanka, Majewski, Jacek, Hodaňová, Kateřina, Ondrová, Lenka, Jeřábková, Markéta, Zikánová, Marie, Vylet'al, Petr, Šebesta, Ivan, Marinaki, Anthony, Simmonds, Anne, Matthijs, Gert, Fryns, Jean-Pierre, Torres, Rosa, Puig, Juan García, Ott, Jurg, Kmoch, Stanislav

المصدر: European Journal of Human Genetics ; volume 11, issue 2, page 145-154 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5200937Test
http://www.nature.com/articles/5200937.pdfTest
http://www.nature.com/articles/5200937Test