المؤلفون: Schott, Clara, Arnaldi, Monica, Baker, Cadence, Wang, Jian, McIntyre, Adam D., Colaiacovo, Samantha, Relouw, Sydney, Offerni, Gabriela Almada, Campagnolo, Carla, Van Nynatten, Logan R., Pourtousi, Ava, Drago-Catalfo, Alexa, Lebedeva, Victoria, Chiu, Michael, Cowan, Andrea, Filler, Guido, Gunaratnam, Lakshman, House, Andrew A., Huang, Susan, Iyer, Hariharan, Jain, Arsh K., Jevnikar, Anthony M., Lotfy, Khaled, Moist, Louise, Rehman, Faisal, Roshanov, Pavel S., Sharma, Ajay P., Weir, Matthew A., Kidd, Kendrah, Bleyer, Anthony J., Hegele, Robert A., Connaughton, Dervla M.

المساهمون: London Health Sciences Centre, Western University Schulich School of Medicine & Dentistry, Academic Medical Organization of Southwestern Ontario

المصدر: Kidney International Reports ; ISSN 2468-0249

الاتاحة: https://doi.org/10.1016/j.ekir.2024.11.004
https://api.elsevier.com/content/article/PII:S246802492402014X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S246802492402014X?httpAccept=text/plain

المؤلفون: Schott, Clara, Colaiacovo, Samantha, Baker, Cadence, Weir, Matthew A., Connaughton, Dervla M.

المساهمون: Academic Medical Organization of Southwestern Ontario, Department of Medicine London Health Science Centre

المصدر: Canadian Journal of Kidney Health and Disease ; volume 11 ; ISSN 2054-3581 2054-3581

الاتاحة: http://dx.doi.org/10.1177/20543581241242562
https://journals.sagepub.com/doi/pdf/10.1177/20543581241242562
https://journals.sagepub.com/doi/full-xml/10.1177/20543581241242562

المؤلفون: Connaughton, Dervla M., Bhai, Pratibha, Isenring, Paul, Mahdi, Mohammed, Sadikovic, Bekim, Schenkel, Laila C.

المساهمون: Alexion Pharma Canada

المصدر: Journal of Molecular Medicine ; volume 101, issue 8, page 1029-1040 ; ISSN 0946-2716 1432-1440

الاتاحة: http://dx.doi.org/10.1007/s00109-023-02341-4
https://link.springer.com/content/pdf/10.1007/s00109-023-02341-4.pdf
https://link.springer.com/article/10.1007/s00109-023-02341-4/fulltext.html

المؤلفون: Schott, Clara, Lebedeva, Victoria, Taylor, Cambrie, Abumelha, Saeed, Roshanov, Pavel S., Connaughton, Dervla M.

المصدر: Clinical Journal of The American Society of Nephrology; January 2025, Vol. 20 Issue: 1 p101-115, 15p

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

المصدر: Journal of nephrology ; 35 ; 6 ; 1655 ; 1665 ; Italy

مصطلحات موضوعية: Chronic kidney disease, Genetic kidney disease, Inherited kidney diseases, Next-generation sequencing, Polycystic kidney genetics

Relation: http://hdl.handle.net/10147/642223; Journal of nephrology

الاتاحة: http://hdl.handle.net/10147/642223
https://doi.org/10.1007/s40620-021-01236-2

المؤلفون: Lüdtke, Timo H.-W., Kleppa, Marc-Jens, Rivera-Reyes, Reginaldo, Qasrawi, Fairouz, Connaughton, Dervla M., Shril, Shirlee, Hildebrandt, Friedhelm, Kispert, Andreas

المصدر: Biochemical Journal ; volume 479, issue 1, page 91-109 ; ISSN 0264-6021 1470-8728

الاتاحة: http://dx.doi.org/10.1042/bcj20210642
https://portlandpress.com/biochemj/article-pdf/479/1/91/927872/bcj-2021-0642.pdf

المؤلفون: Schott, Clara, Pourtousi, Ava, Connaughton, Dervla M.

المساهمون: Western University

المصدر: Frontiers in Urology ; volume 2 ; ISSN 2673-9828

الاتاحة: http://dx.doi.org/10.3389/fruro.2022.1075711
https://www.frontiersin.org/articles/10.3389/fruro.2022.1075711/full

المؤلفون: Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Mann, Nina, Connaughton, Dervla M., Wu, Chen-Han Wilfred, Schneider, Sophia, Schierbaum, Luca, Kause, Franziska, Kolvenbach, Caroline M., Nakayama, Makiko, Dai, Rufeng, Ottlewski, Isabel, Schneider, Ronen, Deutsch, Konstantin, Buerger, Florian, Klämbt, Verena, Mao, Youying, Onuchic-Whitford, Ana C., Nicolas-Frank, Camille, Yousef, Kirollos, Pantel, Dalia, Lai, Ethan W., Salmanullah, Daanya, Majmundar, Amar J., Bauer, Stuart B., Rodig, Nancy M., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daga, Ankana, Baum, Michelle A., Daouk, Ghaleb H., Tasic, Velibor, Awad, Hazem S., Eid, Loai A., El Desoky, Sherif, Shalaby, Mohammed, Kari, Jameela A., Fathy, Hanan M., Soliman, Neveen A., Mane, Shrikant M., Shril, Shirlee, Ferguson, Michael A., Hildebrandt, Friedhelm

المصدر: Genetics in Medicine ; volume 24, issue 2, page 307-318 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2021.09.010
https://api.elsevier.com/content/article/PII:S109836002104137X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002104137X?httpAccept=text/plain

المؤلفون: Wu, Chen-Han Wilfred, Lim, Tze Y., Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Schierbaum, Luca, Schneider, Sophia, Mann, Nina, Connaughton, Dervla M., Nakayama, Makiko, van der Ven, Amelie T., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Stajic, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Turudic, Daniel, Al Saffar, Muna, Awad, Hazem S., Eid, Loai A., Ramanathan, Aravind, Senguttuvan, Prabha, Mane, Shrikant M., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Hilger, Alina C., Tasic, Velibor, Shril, Shirlee, Sanna-Cherchi, Simone, Hildebrandt, Friedhelm

المصدر: European Urology Open Science ; volume 44, page 106-112 ; ISSN 2666-1683

الاتاحة: http://dx.doi.org/10.1016/j.euros.2022.08.004
https://api.elsevier.com/content/article/PII:S2666168322008746?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666168322008746?httpAccept=text/plain

المؤلفون: Branch, Anna, Nuaaman, Mais M., Appleton, C. Thomas, Connaughton, Dervla M., Basmaji, John, Chan, Tommy L.H., Budhram, Adrian

المصدر: Neurology ; volume 102, issue 4 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000209153
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000209153

المؤلفون: Ikeda, Kristin M., House, Andrew A., Connaughton, Dervla M., Pautler, Stephen E., Siu, Victoria Mok, Jones, Michelle-Lee

المصدر: Molecular Syndromology ; volume 12, issue 3, page 154-158 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000513326
https://www.karger.com/Article/Pdf/513326

المؤلفون: Connaughton, Dervla M., Hildebrandt, Friedhelm

المصدر: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ; page 3-38 ; ISBN 9780128125342

الاتاحة: http://dx.doi.org/10.1016/b978-0-12-812534-2.00002-3
https://api.elsevier.com/content/article/PII:B9780128125342000023?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780128125342000023?httpAccept=text/plain

المؤلفون: Benson, Merrill D., Connaughton, Dervla M., Friedman, David J., Ginsburg, David, Hildebrandt, Friedhelm, Jalanko, Hannu, Kääriäinen, Helena, Luger, Selina M., Morrissette, Jennifer J.D., Mrug, Michal, Peslak, Scott, Pollak, Martin R., Pyeritz, Reed E., Rahbari Oskoui, Frederic, Rizk, Dana V., Roth, Jacquelyn J., Saigusa, Takamitsu, Sayani, Farzana, Shavit, Jordan A., Stadtmauer, Edward A., Sullivan, Kathleen E., Weyand, Angela C.

المصدر: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ; page ix-x ; ISBN 9780128125342

الاتاحة: http://dx.doi.org/10.1016/b978-0-12-812534-2.01002-x
https://api.elsevier.com/content/article/PII:B978012812534201002X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B978012812534201002X?httpAccept=text/plain

المؤلفون: Wu, Chen-Han Wilfred, Mann, Nina, Nakayama, Makiko, Connaughton, Dervla M., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Wang, Chunyan, Klämbt, Verena, Seltzsam, Steve, Lai, Ethan W., Selvin, Aravind, Senguttuva, Prabha, Bodamer, Olaf, Stein, Deborah R., El Desoky, Sherif, Kari, Jameela A., Tasic, Velibor, Bauer, Stuart B., Shril, Shirlee, Hildebrandt, Friedhelm

المساهمون: National Institutes of Health, Begg Family Foundation, Deutsche Forschungsgemeinschaft

المصدر: Genetics in Medicine ; volume 22, issue 10, page 1673-1681 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-0844-z
http://www.nature.com/articles/s41436-020-0844-z.pdf
http://www.nature.com/articles/s41436-020-0844-z
https://api.elsevier.com/content/article/PII:S1098360021007401?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007401?httpAccept=text/plain

المؤلفون: Schneider, Ronen, Deutsch, Konstantin, Hoeprich, Gregory J., Marquez, Jonathan, Hermle, Tobias, Braun, Daniela A., Seltzsam, Steve, Kitzler, Thomas M., Mao, Youying, Buerger, Florian, Majmundar, Amar J., Onuchic-Whitford, Ana C., Kolvenbach, Caroline M., Schierbaum, Luca, Schneider, Sophia, Halawi, Abdul A., Nakayama, Makiko, Mann, Nina, Connaughton, Dervla M., Klämbt, Verena, Wagner, Matias, Riedhammer, Korbinian M., Renders, Lutz, Katsura, Yoshichika, Thumkeo, Dean, Soliman, Neveen A., Mane, Shrikant, Lifton, Richard P., Shril, Shirlee, Khokha, Mustafa K., Hoefele, Julia, Goode, Bruce L., Hildebrandt, Friedhelm

المساهمون: National Institutes of Health, National Human Genome Research Institute

المصدر: The American Journal of Human Genetics ; volume 107, issue 6, page 1113-1128 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2020.11.008
https://api.elsevier.com/content/article/PII:S0002929720304055?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720304055?httpAccept=text/plain

المؤلفون: Connaughton, Dervla M., Dai, Rufeng, Owen, Danielle J., Marquez, Jonathan, Mann, Nina, Graham-Paquin, Adda L., Nakayama, Makiko, Coyaud, Etienne, Laurent, Estelle M.N., St-Germain, Jonathan R., Blok, Lot Snijders, Vino, Arianna, Klämbt, Verena, Deutsch, Konstantin, Wu, Chen-Han Wilfred, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Schneider, Ronen, Kitzler, Thomas M., Majmundar, Amar J., Buerger, Florian, Onuchic-Whitford, Ana C., Youying, Mao, Kolb, Amy, Salmanullah, Daanya, Chen, Evan, van der Ven, Amelie T., Rao, Jia, Ityel, Hadas, Seltzsam, Steve, Rieke, Johanna M., Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Dworschak, Gabriel C., Hermle, Tobias, Alders, Mariëlle, Bartolomaeus, Tobias, Bauer, Stuart B., Baum, Michelle A., Brilstra, Eva H., Challman, Thomas D., Zyskind, Jacob, Costin, Carrie E., Dipple, Katrina M., Duijkers, Floor A., Ferguson, Marcia, Fitzpatrick, David R.

المصدر: The American Journal of Human Genetics ; volume 107, issue 4, page 727-742 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2020.08.013
https://api.elsevier.com/content/article/PII:S0002929720302822?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720302822?httpAccept=text/plain

المؤلفون: Murray, Susan L., Dorman, Anthony, Benson, Katherine A., Connaughton, Dervla M., Stapleton, Caragh P., Fennelly, Neil K., Kennedy, Claire, McDonnell, Ciara A., Kidd, Kendrah, Cormican, Sarah M., Ryan, Louise A., Lavin, Peter, Little, Mark A., Bleyer, Anthony J., Doyle, Brendan, Cavalleri, Gianpiero L., Hildebrandt, Friedhelm, Conlon, Peter J.

المصدر: American Journal of Nephrology ; volume 51, issue 1, page 43-53 ; ISSN 0250-8095 1421-9670

الاتاحة: http://dx.doi.org/10.1159/000504869
https://www.karger.com/Article/Pdf/504869

المؤلفون: Mann, Nina, Braun, Daniela A., Amann, Kassaundra, Tan, Weizhen, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Schneider, Ronen, Kitzler, Thomas M., van der Ven, Amelie T., Chen, Jing, Ityel, Hadas, Vivante, Asaf, Majmundar, Amar J., Daga, Ankana, Warejko, Jillian K., Lovric, Svjetlana, Ashraf, Shazia, Jobst-Schwan, Tilman, Widmeier, Eugen, Hugo, Hannah, Mane, Shrikant M., Spaneas, Leslie, Somers, Michael J.G., Ferguson, Michael A., Traum, Avram Z., Stein, Deborah R., Baum, Michelle A., Daouk, Ghaleb H., Lifton, Richard P., Manzi, Shannon, Vakili, Khashayar, Kim, Heung Bae, Rodig, Nancy M., Hildebrandt, Friedhelm

المصدر: Journal of the American Society of Nephrology ; volume 30, issue 2, page 201-215 ; ISSN 1046-6673 1533-3450

الاتاحة: http://dx.doi.org/10.1681/asn.2018060575
https://journals.lww.com/00001751-201902000-00005

المؤلفون: Connaughton, Dervla M., Kennedy, Claire, Shril, Shirlee, Mann, Nina, Murray, Susan L., Williams, Patrick A., Conlon, Eoin, Nakayama, Makiko, van der Ven, Amelie T., Ityel, Hadas, Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Vivante, Asaf, Braun, Daniela A., Schneider, Ronen, Kitzler, Thomas M., Moloney, Brona, Moran, Conor P., Smyth, John S., Kennedy, Alan, Benson, Katherine, Stapleton, Caragh, Denton, Mark, Magee, Colm, O’Seaghdha, Conall M., Plant, William D., Griffin, Matthew D., Awan, Atif, Sweeney, Clodagh, Mane, Shrikant M., Lifton, Richard P., Griffin, Brenda, Leavey, Sean, Casserly, Liam, de Freitas, Declan G., Holian, John, Dorman, Anthony, Doyle, Brendan, Lavin, Peter J., Little, Mark A., Conlon, Peter J., Hildebrandt, Friedhelm

المساهمون: National Institutes of Health, Health Research Board, Research Foundation, Irish Nephrology Society, Kidney Foundation of Canada, Canadian Institutes of Health Research, Science Foundation Ireland, Meath Foundation, Beaumont

المصدر: Kidney International ; volume 95, issue 4, page 914-928 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1016/j.kint.2018.10.031
https://api.elsevier.com/content/article/PII:S0085253818308391?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253818308391?httpAccept=text/plain

المؤلفون: Mann, Nina, Kause, Franziska, Henze, Erik K., Gharpure, Anant, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Klämbt, Verena, Majmundar, Amar J., Wu, Chen-Han W., Kolvenbach, Caroline M., Dai, Rufeng, Chen, Jing, van der Ven, Amelie T., Ityel, Hadas, Tooley, Madeleine J., Kari, Jameela A., Bownass, Lucy, El Desoky, Sherif, De Franco, Elisa, Shalaby, Mohamed, Tasic, Velibor, Bauer, Stuart B., Lee, Richard S., Beckel, Jonathan M., Yu, Weiqun, Mane, Shrikant M., Lifton, Richard P., Reutter, Heiko, Ellard, Sian, Hibbs, Ryan E., Kawate, Toshimitsu, Hildebrandt, Friedhelm

المساهمون: Foundation for the National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 105, issue 6, page 1286-1293 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2019.10.004
https://api.elsevier.com/content/article/PII:S0002929719303921?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719303921?httpAccept=text/plain