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1دورية أكاديمية
المؤلفون: Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H. Driller, Bjørn P. Pedersen, Karl P. Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüller
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)
مصطلحات موضوعية: Bartter syndrome type 3, Salt-wasting tubulopathy, Long-read sequencing, Target enrichment, CLCNKA, CLCNKB, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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2دورية أكاديمية
المؤلفون: Melanie MY Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, Alina C Hilger, Horia C Stanescu, Catalin D Voinescu, Glenda M Beaman, William G Newman, Marcin Zaniew, Stefanie Weber, Yee Mang Ho, John O Connolly, Dan Wood, Carlo Maj, Alexander Stuckey, Athanasios Kousathanas, Genomics England Research Consortium, Robert Kleta, Adrian S Woolf, Detlef Bockenhauer, Adam P Levine, Daniel P Gale
المصدر: eLife, Vol 11 (2022)
مصطلحات موضوعية: whole-genome sequencing, genome-wide association study, seqGWAS, CAKUT, PUV, posterior urethral valves, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer, Tanja Kersnik Levart, Jack Wetzels, Elisabeth Cornelissen, Olivier Devuyst, Aleksandra Zurowska, Lars Pape, Anja Buescher, Dieter Haffner, Natasa Marcun Varda, Gian Marco Ghiggeri, Giuseppe Remuzzi, Martin Konrad, Germana Longo, Detlef Bockenhauer, Atif Awan, Ilze Andersone, Jaap W. Groothoff, Franz Schaefer
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
مصطلحات موضوعية: European Rare Kidney Disease Reference Network (ERKNet), Registry, Epidemiology, Nephrology, Pediatric nephrology, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديمية
المؤلفون: Mallory L. Downie, Sanjana Gupta, Mehmet C. Tekman, Chris Cheshire, Steven Arora, Christoph Licht, Lisa A. Robinson, Marina Munoz, Alvaro Madrid Aris, Ibrahim Al Attrach, Paul E. Brenchley, Daniel P. Gale, Horia Stanescu, Detlef Bockenhauer, Robert Kleta
المصدر: Kidney International Reports, Vol 6, Iss 6, Pp 1669-1676 (2021)
مصطلحات موضوعية: genetic risk score, glomerulonephritis, linkage analysis, LOD score, membranous nephropathy, X-linked, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Sanjana Gupta, Mallory Louise Downie, Chris Cheshire, Stephanie Dufek-Kamperis, Adam Paul Levine, Paul Brenchley, Elion Hoxha, Rolf Stahl, Neil Ashman, Ruth Jennifer Pepper, Sean Mason, Jill Norman, Detlef Bockenhauer, Horia Constantin Stanescu, Robert Kleta, Daniel Philip Gale
المصدر: Glomerular Diseases, Pp 1-1 (2023)
مصطلحات موضوعية: phospholipase a2 receptor 1, thrombospondin type-1 domain containing 7a, autoantibody, genetic risk score, membranous nephropathy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Martin T Christian, Nicholas JA Webb, Rebecca L Woolley, Nafsika Afentou, Samir Mehta, Emma Frew, Elizabeth A Brettell, Adam R Khan, David V Milford, Detlef Bockenhauer, Moin A Saleem, Angela S Hall, Ania Koziell, Heather Maxwell, Shivaram Hegde, Eric R Finlay, Rodney D Gilbert, Caroline Jones, Karl McKeever, Wendy Cook, Natalie Ives
المصدر: Health Technology Assessment, Vol 26, Iss 3 (2022)
مصطلحات موضوعية: nephrotic syndrome, corticosteroid, prednisolone, relapse, upper respiratory tract infection, urti, health economic, cost-effectiveness, Medical technology, R855-855.5
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Sumaya Islam, Mehmet Tekman, Sarah E. Flanagan, Lisa Guay‐Woodford, Khalid Hussain, Sian Ellard, Robert Kleta, Detlef Bockenhauer, Horia Stanescu, Daniela Iancu
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
مصطلحات موضوعية: founder effect, hyperinsulinism, hypoglycaemia, PMM2 gene, polycystic kidney disease, promoter, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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8دورية أكاديمية
المؤلفون: Vaksha Patel, Enriko Klootwijk, Gail Whiting, Detlef Bockenhauer, Keith Siew, Stephen Walsh, Markus Bleich, Nina Himmerkus, Graciana Jaureguiberry, Naomi Issler, Jasminka Godovac‐Zimmermann, Robert Kleta, Jun Wheeler
المصدر: Physiological Reports, Vol 9, Iss 24, Pp n/a-n/a (2021)
مصطلحات موضوعية: calcium metabolism, enamel renal syndrome, FAM20A and human milk, Physiology, QP1-981
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2051-817X
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9دورية أكاديمية
المؤلفون: Jingyuan Xie, Lili Liu, Nikol Mladkova, Yifu Li, Hong Ren, Weiming Wang, Zhao Cui, Li Lin, Xiaofan Hu, Xialian Yu, Jing Xu, Gang Liu, Yasar Caliskan, Carlo Sidore, Olivia Balderes, Raphael J. Rosen, Monica Bodria, Francesca Zanoni, Jun Y. Zhang, Priya Krithivasan, Karla Mehl, Maddalena Marasa, Atlas Khan, Fatih Ozay, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Simone Sanna-Cherchi, Matthew G. Sampson, Laura H. Mariani, Agnieszka Perkowska-Ptasinska, Magdalena Durlik, Krzysztof Mucha, Barbara Moszczuk, Bartosz Foroncewicz, Leszek Pączek, Ireneusz Habura, Elisabet Ars, Jose Ballarin, Laila-Yasmin Mani, Bruno Vogt, Savas Ozturk, Abdülmecit Yildiz, Nurhan Seyahi, Hakki Arikan, Mehmet Koc, Taner Basturk, Gonca Karahan, Sebahat Usta Akgul, Mehmet Sukru Sever, Dan Zhang, Domenico Santoro, Mario Bonomini, Francesco Londrino, Loreto Gesualdo, Jana Reiterova, Vladimir Tesar, Claudia Izzi, Silvana Savoldi, Donatella Spotti, Carmelita Marcantoni, Piergiorgio Messa, Marco Galliani, Dario Roccatello, Simona Granata, Gianluigi Zaza, Francesca Lugani, GianMarco Ghiggeri, Isabella Pisani, Landino Allegri, Ben Sprangers, Jin-Ho Park, BeLong Cho, Yon Su Kim, Dong Ki Kim, Hitoshi Suzuki, Antonio Amoroso, Daniel C. Cattran, Fernando C. Fervenza, Antonello Pani, Patrick Hamilton, Shelly Harris, Sanjana Gupta, Chris Cheshire, Stephanie Dufek, Naomi Issler, Ruth J. Pepper, John Connolly, Stephen Powis, Detlef Bockenhauer, Horia C. Stanescu, Neil Ashman, Ruth J. F. Loos, Eimear E. Kenny, Matthias Wuttke, Kai-Uwe Eckardt, Anna Köttgen, Julia M. Hofstra, Marieke J. H. Coenen, Lambertus A. Kiemeney, Shreeram Akilesh, Matthias Kretzler, Lawrence H. Beck, Benedicte Stengel, Hanna Debiec, Pierre Ronco, Jack F. M. Wetzels, Magdalena Zoledziewska, Francesco Cucca, Iuliana Ionita-Laza, Hajeong Lee, Elion Hoxha, Rolf A. K. Stahl, Paul Brenchley, Francesco Scolari, Ming-hui Zhao, Ali G. Gharavi, Robert Kleta, Nan Chen, Krzysztof Kiryluk
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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10دورية أكاديمية
المؤلفون: Shazia Adalat, Wesley N. Hayes, William A. Bryant, John Booth, Adrian S. Woolf, Robert Kleta, Sandra Subtil, Rhian Clissold, Kevin Colclough, Sian Ellard, Detlef Bockenhauer
المصدر: Kidney International Reports, Vol 4, Iss 9, Pp 1304-1311 (2019)
مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource