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1دورية أكاديمية
المؤلفون: Tschernoster, Nikolai, Erger, Florian, Kohl, Stefan, Reusch, Björn, Wenzel, Andrea, Walsh, Stephen, Thiele, Holger, Becker, Christian, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Lena, Kukat, Christian, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter, Rinschen, Markus M., Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno, Bockenhauer, Detlef, Beck, Bodo, Altmüller, Janine
المصدر: Tschernoster , N , Erger , F , Kohl , S , Reusch , B , Wenzel , A , Walsh , S , Thiele , H , Becker , C , Franitza , M , Bartram , M P , Kömhoff , M , Schumacher , L , Kukat , C , Borodina , T , Quedenau , C , Nürnberg , P , Rinschen , M M , Driller , J H , Pedersen , B P , Schlingmann , K P , Hüttel , B , Bockenhauer , D , Beck , B & Altmüller , ....
مصطلحات موضوعية: Bartter syndrome type 3, CLCNKA, CLCNKB, HiFi-sequencing, Long-read sequencing, Next-generation sequencing, Risk haplotype, Salt-wasting tubulopathy, Structural variant, Target enrichment
الإتاحة: https://doi.org/10.1186/s13073-023-01215-1Test
https://pure.au.dk/portal/en/publications/53efb788-2420-4d57-8613-b7821ec186ccTest
http://www.scopus.com/inward/record.url?scp=85168624869&partnerID=8YFLogxKTest -
2دورية أكاديمية
المؤلفون: Erger, Florian, Aryal, Rajindra P, Reusch, Björn, Matsumoto, Yasuyuki, Meyer, Robert, Zeng, Junwei, Knopp, Cordula, Noel, Maxence, Muerner, Lukas, Wenzel, Andrea, Kohl, Stefan, Tschernoster, Nikolai, Rappl, Gunter, Rouvet, Isabelle, Schröder-Braunstein, Jutta, Seibert, Felix S, Thiele, Holger, Häusler, Martin G, Weber, Lutz T, Büttner-Herold, Maike, Elbracht, Miriam, Cummings, Sandra F, Altmüller, Janine, Habbig, Sandra, Cummings, Richard D, Beck, Bodo B
المصدر: Erger, Florian; Aryal, Rajindra P; Reusch, Björn; Matsumoto, Yasuyuki; Meyer, Robert; Zeng, Junwei; Knopp, Cordula; Noel, Maxence; Muerner, Lukas; Wenzel, Andrea; Kohl, Stefan; Tschernoster, Nikolai; Rappl, Gunter; Rouvet, Isabelle; Schröder-Braunstein, Jutta; Seibert, Felix S; Thiele, Holger; Häusler, Martin G; Weber, Lutz T; Büttner-Herold, Maike; . (2023). Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 120(22), e2211087120. National Academy of Sciences 10.1073/pnas.2211087120
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://boris.unibe.ch/182803Test/
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3دورية أكاديمية
المؤلفون: Strathmann, Eike A., Hölker, Irmgard, Tschernoster, Nikolai, Hosseinibarkooie, Seyyedmohsen, Come, Julien, Martinat, Cecile, Altmüller, Janine, Wirth, Brunhilde
المصدر: The American Journal of Human Genetics ; volume 110, issue 3, page 442-459 ; ISSN 0002-9297
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.02.004Test
https://api.elsevier.com/content/article/PII:S0002929723000484?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929723000484?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Tschernoster, Nikolai, Erger, Florian, Walsh, Patrick R., McNicholas, Bairbre, Fistrek, Margareta, Habbig, Sandra, Schumacher, Anna-Lena, Folz-Donahue, Kat, Kukat, Christian, Toliat, Mohammad R., Becker, Christian, Thiele, Holger, Kavanagh, David, Nürnberg, Peter, Beck, Bodo B., Altmüller, Janine
المساهمون: Deutsche Forschungsgemeinschaft
المصدر: The Journal of Molecular Diagnostics ; volume 24, issue 6, page 619-631 ; ISSN 1525-1578
مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine
الإتاحة: https://doi.org/10.1016/j.jmoldx.2022.02.006Test
https://api.elsevier.com/content/article/PII:S1525157822000769?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157822000769?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Ferreira, Pedro, Höfer, Verena, Kronshage, Nora, Marko, Anika, Reusswig, Karl-Uwe, Tetik, Bilal, Dießel, Christoph, Köhler, Kerstin, Tschernoster, Nikolai, Altmüller, Janine, Schulze, Nina, Pfander, Boris, Boos, Dominik
المساهمون: Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen, José Carreras Leukämie-Stiftung, Deutsche Forschungsgemeinschaft, Projekt DEAL
المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-021-83287-wTest
https://www.nature.com/articles/s41598-021-83287-w.pdfTest
https://www.nature.com/articles/s41598-021-83287-wTest -
6دورية أكاديمية
المؤلفون: Augustin, Max, Schommers, Philipp, Stecher, Melanie, Dewald, Felix, Gieselmann, Lutz, Gruell, Henning, Horn, Carola, Vanshylla, Kanika, Cristanziano, Veronica Di, Osebold, Luise, Roventa, Maria, Riaz, Toqeer, Tschernoster, Nikolai, Altmueller, Janine, Rose, Leonard, Salomon, Susanne, Priesner, Vanessa, Luers, Jan Christoffer, Albus, Christian, Rosenkranz, Stephan, Gathof, Birgit, Fätkenheuer, Gerd, Hallek, Michael, Klein, Florian, Suárez, Isabelle, Lehmann, Clara
المساهمون: Bundesministerium für Bildung und Forschung, Bundesministerium fur Bildung und Forschung Dienststelle Berlin
المصدر: The Lancet Regional Health - Europe ; volume 6, page 100122 ; ISSN 2666-7762
الإتاحة: https://doi.org/10.1016/j.lanepe.2021.100122Test
https://api.elsevier.com/content/article/PII:S2666776221000995?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666776221000995?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Köntges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B., Habbig, Sandra
المساهمون: Deutsche Forschungsgemeinschaft
المصدر: Kidney International Reports ; volume 6, issue 5, page 1368-1378 ; ISSN 2468-0249
مصطلحات موضوعية: Nephrology
الإتاحة: https://doi.org/10.1016/j.ekir.2021.01.023Test
https://api.elsevier.com/content/article/PII:S2468024921000267?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024921000267?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Florian, Rahel T, Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D M, Vijfhuizen, Lisanne S, Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S, Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F, Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A, Tijssen, Marina A J
المصدر: FAME consortium , Florian , R T , Kraft , F , Leitão , E , Kaya , S , Klebe , S , Magnin , E , van Rootselaar , A-F , Buratti , J , Kühnel , T , Schröder , C , Giesselmann , S , Tschernoster , N , Altmueller , J , Lamiral , A , Keren , B , Nava , C , Bouteiller , D , Forlani , S , Jornea , L , Kubica , R , Ye , T , Plassard , D , Jost , B , Meyer , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41467-019-12763-9Test
https://hdl.handle.net/11370/1b3985c2-2da7-4000-98f7-0b85b22b63e2Test
https://research.rug.nl/en/publications/1b3985c2-2da7-4000-98f7-0b85b22b63e2Test
https://pure.rug.nl/ws/files/108293661/Unstable_TTTTA_TTTCA_expansions_in_MARCH6_are_associated_with_Familial_Adult_Myoclonic_Epilepsy_type_3.pdfTest -
9دورية أكاديمية
المؤلفون: Florian, Rahel T., Kraft, Florian, Gießelmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Leitão, Elsa, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kaya, Sabine, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Klebe, Stephan, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., Magnin, Eloi, van den Maagdenberg, Arn M. J. M., Depienne, Christel, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher
المصدر: Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9
مصطلحات موضوعية: info:eu-repo/classification/ddc/500
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500009; info:eu-repo/semantics/altIdentifier/pmid/pmid:31664039; info:eu-repo/semantics/altIdentifier/issn/2041-1723; https://publications.rwth-aachen.de/record/782422Test; https://publications.rwth-aachen.de/search?p=id:%22RWTH-2020-01868%22Test
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10رسالة جامعية
المؤلفون: Tschernoster, Nikolai
وصف الملف: application/pdf
العلاقة: https://kups.ub.uni-koeln.de/70960/1/Dissertation_Nikolai_Tschernoster_KUPS.pdfTest; Tschernoster, Nikolai (2023). Genomic profiling in rare kidney disease. PhD thesis, Universität zu Köln.
