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1دورية أكاديمية
المؤلفون: Yvan Devaux, Lu Zhang, Andrew I. Lumley, Kanita Karaduzovic-Hadziabdic, Vincent Mooser, Simon Rousseau, Muhammad Shoaib, Venkata Satagopam, Muhamed Adilovic, Prashant Kumar Srivastava, Costanza Emanueli, Fabio Martelli, Simona Greco, Lina Badimon, Teresa Padro, Mitja Lustrek, Markus Scholz, Maciej Rosolowski, Marko Jordan, Timo Brandenburger, Bettina Benczik, Bence Agg, Peter Ferdinandy, Jörg Janne Vehreschild, Bettina Lorenz-Depiereux, Marcus Dörr, Oliver Witzke, Gabriel Sanchez, Seval Kul, Andy H. Baker, Guy Fagherazzi, Markus Ollert, Ryan Wereski, Nicholas L. Mills, Hüseyin Firat
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Katharina Tilch, Sina M. Hopff, Katharina Appel, Monika Kraus, Bettina Lorenz-Depiereux, Lisa Pilgram, Gabi Anton, Sarah Berger, Ramsia Geisler, Kirsten Haas, Thomas Illig, Dagmar Krefting, Roberto Lorbeer, Lazar Mitrov, Maximilian Muenchhoff, Matthias Nauck, Christina Pley, Jens-Peter Reese, Siegbert Rieg, Margarete Scherer, Melanie Stecher, Christoph Stellbrink, Heike Valentin, Christof Winter, Martin Witzenrath, J. Janne Vehreschild
المصدر: BMC Medical Ethics, Vol 24, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Pandemic preparedness, Ethical approval, COVID-19, Multicenter study, Study initiation, Ethics committee, Medical philosophy. Medical ethics, R723-726
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1472-6939
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3دورية أكاديميةRenal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
المؤلفون: Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Clara Hemmer, Matthias C. Braunisch, Korbinian M. Riedhammer, Jasmina Ćomić, Burkhard Tönshoff, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Karin Buiting, Nikola Gjorgjievski, Ana Momirovska, Ludwig Patzer, Martin Kirschstein, Oliver Gross, Adrian Lungu, Stefanie Weber, Lutz Renders, Uwe Heemann, Thomas Meitinger, Anja K. Büscher, Julia Hoefele
المصدر: Frontiers in Medicine, Vol 9 (2022)
مصطلحات موضوعية: Alport syndrome, X-inactivation, COL4A5, urine-derived cells, microscopic hematuria, proteinuria, Medicine (General), R5-920
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Nirav Florian Chhabra, Anna–Lena Amend, Aimée Bastidas-Ponce, Sibylle Sabrautzki, Marta Tarquis-Medina, Stephan Sachs, Marina Rubey, Bettina Lorenz-Depiereux, Annette Feuchtinger, Mostafa Bakhti, Heiko Lickert, Gerhard K.H. Przemeck, Martin Hrabě de Angelis
المصدر: Molecular Metabolism, Vol 54, Iss , Pp 101334- (2021)
وصف الملف: electronic resource
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5
المؤلفون: Dagmar Krefting, Gabi Anton, Irina Chaplinskaya-Sobol, Sabine Hanss, Wolfgang Hoffmann, Sina M. Hopff, Monika Kraus, Roberto Lorbeer, Bettina Lorenz-Depiereux, Thomas Illig, Christian Schäfer, Jens Schaller, Dana Stahl, Heike Valentin, Peter Heuschmann, Janne Vehreschild
المصدر: Caring is Sharing – Exploiting the Value in Data for Health and Innovation ISBN: 9781643683881
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fa2baf75fc2ac82ce218702a5ad25b3f
https://doi.org/10.3233/shti230071 -
6دورية أكاديمية
المؤلفون: Helmut Fuchs, Sibylle Sabrautzki, Gerhard K. H. Przemeck, Stefanie Leuchtenberger, Bettina Lorenz-Depiereux, Lore Becker, Birgit Rathkolb, Marion Horsch, Lillian Garrett, Manuela A. Östereicher, Wolfgang Hans, Koichiro Abe, Nobuho Sagawa, Jan Rozman, Ingrid L. Vargas-Panesso, Michael Sandholzer, Thomas S. Lisse, Thure Adler, Juan Antonio Aguilar-Pimentel, Julia Calzada-Wack, Nicole Ehrhard, Ralf Elvert, Christine Gau, Sabine M. Hölter, Katja Micklich, Kristin Moreth, Cornelia Prehn, Oliver Puk, Ildiko Racz, Claudia Stoeger, Alexandra Vernaleken, Dian Michel, Susanne Diener, Thomas Wieland, Jerzy Adamski, Raffi Bekeredjian, Dirk H. Busch, John Favor, Jochen Graw, Martin Klingenspor, Christoph Lengger, Holger Maier, Frauke Neff, Markus Ollert, Tobias Stoeger, Ali Önder Yildirim, Tim M. Strom, Andreas Zimmer, Eckhard Wolf, Wolfgang Wurst, Thomas Klopstock, Johannes Beckers, Valerie Gailus-Durner, Martin Hrabé de Angelis
المصدر: G3: Genes, Genomes, Genetics, Vol 6, Iss 12, Pp 4035-4046 (2016)
مصطلحات موضوعية: SCUBE3, systemic phenotype, pleitropy, Paget disease of bone (PDB), mouse model, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2160-1836
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7
المؤلفون: Maximilian Jakob Schons, Lisa Pilgram, Jens-Peter Reese, Melanie Stecher, Gabriele Anton, Katharina Appel, Thomas Bahmer, Alexander Bartschke, Carla Bellinghausen, Inga Bernemann, Markus Brechtel, Folke Brinkmann, Clara Brünn, Christine Dhillon, Cornelia Fiessler, Ramsia Geisler, Stefan Hansch, Frank Hanses, Sabine Hanß, Susanne Herold, Ralf Heyder, Anna-Lena Hofmann, Sina Marie Hopff, Anna Horn, Carolin Jakob, Steffi Jiru-Hillmann, Thomas Keil, Yascha Khodamoradi, Mirjam Kohls, Monika Kraus, Dagmar Krefting, Sonja Kunze, Florian Kurth, Wolfgang Lieb, Lena Johanna Lippert, Roberto Lorbeer, Bettina Lorenz-Depiereux, Corina Maetzler, Olga Miljukov, Matthias Nauck, Daniel Pape, Valentina Püntmann, Lennart Reinke, Christoph Römmele, Stefanie Rudolph, Julian Sass, Christian Schäfer, Jens Schaller, Mario Schattschneider, Christian Scheer, Margarete Scherer, Sein Schmidt, Julia Schmidt, Kristina Seibel, Dana Stahl, Fridolin Steinbeis, Stefan Störk, Maike Tauchert, Charlotte Thibeault, Nicole Toepfner, Kathrin Ungethüm, Istvan Vadasz, Heike Valentin, Silke Wiedmann, Thomas Zoller, Eike Nagel, Michael Krawczak, Christof von Kalle, Thomas Illig, Stefan Schreiber, Martin Witzenrath, Peter Heuschmann, Jörg Janne Vehreschild
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1a5d994e3d1355346f020596910e0b0a
https://doi.org/10.21203/rs.3.rs-1249111/v1 -
8
المؤلفون: Maximilian, Schons, Lisa, Pilgram, Jens-Peter, Reese, Melanie, Stecher, Gabriele, Anton, Katharina S, Appel, Thomas, Bahmer, Alexander, Bartschke, Carla, Bellinghausen, Inga, Bernemann, Markus, Brechtel, Folke, Brinkmann, Clara, Brünn, Christine, Dhillon, Cornelia, Fiessler, Ramsia, Geisler, Eckard, Hamelmann, Stefan, Hansch, Frank, Hanses, Sabine, Hanß, Susanne, Herold, Ralf, Heyder, Anna-Lena, Hofmann, Sina Marie, Hopff, Anna, Horn, Carolin, Jakob, Steffi, Jiru-Hillmann, Thomas, Keil, Yascha, Khodamoradi, Mirjam, Kohls, Monika, Kraus, Dagmar, Krefting, Sonja, Kunze, Florian, Kurth, Wolfgang, Lieb, Lena Johanna, Lippert, Roberto, Lorbeer, Bettina, Lorenz-Depiereux, Corina, Maetzler, Olga, Miljukov, Matthias, Nauck, Daniel, Pape, Valentina, Püntmann, Lennart, Reinke, Christoph, Römmele, Stefanie, Rudolph, Julian, Sass, Christian, Schäfer, Jens, Schaller, Mario, Schattschneider, Christian, Scheer, Margarete, Scherer, Sein, Schmidt, Julia, Schmidt, Kristina, Seibel, Dana, Stahl, Fridolin, Steinbeis, Stefan, Störk, Maike, Tauchert, Johannes Josef, Tebbe, Charlotte, Thibeault, Nicole, Toepfner, Kathrin, Ungethüm, Istvan, Vadasz, Heike, Valentin, Silke, Wiedmann, Thomas, Zoller, Eike, Nagel, Michael, Krawczak, Christof, von Kalle, Thomas, Illig, Stefan, Schreiber, Martin, Witzenrath, Peter, Heuschmann, Jörg Janne, Vehreschild
المصدر: European journal of epidemiology. 37(8)
مصطلحات موضوعية: Adult, Male, Clinical Trials as Topic, Epidemiology, SARS-CoV-2, COVID-19, Middle Aged, Intensive Care Units, Research Design, Humans, Female, ddc:610, Child, Pandemics
وصف الملف: application/pdf
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9
المؤلفون: Martin Krenn, Christoph Hotzy, Thomas Meitinger, Bettina Lorenz-Depiereux, Theresa Brunet, Fritz Zimprich, Matias Wagner, Elisabeth Stögmann, Elisabeth Graf, Sandrina Weber, Ekaterina Pataraia, Gregor Kasprian, Tim M. Strom, Susanne Aull-Watschinger, Alexander Zimprich
المصدر: Journal of Medical Genetics. 57:624-633
مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Druggability, RBFOX1, Computational biology, Biology, Young Adult, Exome Sequencing, Genetics, Humans, Exome, Genetic Predisposition to Disease, Child, Gene, Genetics (clinical), Exome sequencing, Aged, STX1B, GTPase-Activating Proteins, Genetic Variation, Infant, Middle Aged, NPRL3, DEPDC5, Repressor Proteins, Phenotype, Child, Preschool, Multiprotein Complexes, Mutation, Female, Epilepsies, Partial, Signal Transduction
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10
المؤلفون: Tim M. Strom, Shruti Gupta, Radhika Srinivasan, Bettina Lorenz-Depiereux, Rajesh Kumar, Devi Dayal
المصدر: Intractable & Rare Diseases Research. 10:55-57
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Proband, Pathology, medicine.medical_specialty, business.industry, General Medicine, 030105 genetics & heredity, medicine.disease, Calcinosis cutis, 03 medical and health sciences, symbols.namesake, Exon, Hyperphosphatemia, 0302 clinical medicine, medicine, symbols, Tumoral calcinosis, business, Gene, 030217 neurology & neurosurgery, Calcification
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b1455cb76a150a612702c0aae5f087aa
https://doi.org/10.5582/irdr.2020.03084