학술논문
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'학술논문'
에서 검색결과 1,465건 | 목록
1~20
Academic Journal
Werr, Lisa; Bartenhagen, Christoph; Rosswog, Carolina; Cartolano, Maria; Voegele, Catherine; Sexton-Oates, Alexandra; Di Genova, Alex; Ernst, Angela; Kahlert, Yvonne; Hemstedt, Nadine; Höppner, Stefanie; Mansuet Lupo, Audrey; Pelosi, Giuseppe; Brcic, Luka; Papotti, Mauro; George, Julie; Bosco, Graziella; Quaas, Alexander; Tang, Laura H.; Robzyk, Kenneth; Kadota, Kyuichi; Roh, Mee Sook; Fanaroff, Rachel E.; Falcon, Christina J.; Büttner, Reinhard; Lantuejoul, Sylvie; Rekhtman, Natasha; Rudin, Charles M.; Travis, William D.; Alcala, Nicolas; Fernandez-Cuesta, Lynnette; Foll, Matthieu; Peifer, Martin; Thomas, Roman K.; Fischer, Matthias; null, null; Absenger, Gudrun; Altmüller, Janine; Berthet, Jean-Philippe; Bibeau, Frederic; Fourner, Cécile Blanc; Boland, Anne; Bonnetaud, Christelle; Brevet, Marie; Brustugun, Odd Terje; Centonze, Giovanni; Chalabreysse, Lara; Cohen, Charlotte; Deleuze, Jean-Francois; Derks, Jules L.; Di Micco, Concetta Martina; Dingemans, Anne-Marie C.; Fadel, Élie; Graziano, Paolo; Hofman, Paul; Hofman, Veronique; Lacomme, Stéphanie; Lund-Iversen, Marius; Metovic, Jasna; Milione, Massimo; Moonen, Laura; Muscarella, Lucia Anna; Nürnberg, Peter; Olaso, Robert; Meyer, Vincent; Perrin, Corinne; Planchard, Gaetane; Popper, Helmut; Rousseau, Nathalie; Roz, Luca; Sabella, Giovanna; Sparaneo, Angelo; Speel, Ernst Jan M.; Thivolet-Béjui, Françoise; Thomas de Montpréville, Vincent; Volante, Marco; Wright, Gavin M.; Damiola, Francesca; Tabone-Eglinger, Séverine; Girard, Nicolas
J Clin Oncol
Academic Journal
Koko, Mahmoud; Elseed, Maha A.; Mohammed, Inaam N.; Hamed, Ahlam A.; Abd Allah, Amal S. I.; Yahia, Ashraf; Siddig, Rayan A.; Altmüller, Janine; Toliat, Mohammad Reza; Elmahdi, Esra O.; Amin, Mutaz; Ahmed, Elhami A.; Eltazi, Isra Z. M.; Elmugadam, Fatima A.; Abdelgadir, Wasma A.; Eltaraifee, Esraa; Ibrahim, Mohamed O. M.; Ali, Nabila M. H.; Malik, Hiba M.; Babai, Arwa M.; Bakhit, Yousuf H.; Nürnberg, Peter; Ibrahim, Muntaser E.; Salih, Mustafa A.; Schubert, Julian; Elsayed, Liena E. O.; Lerche, Holger
European Journal of Human Genetics. 32(10):1338-1342
Academic Journal
Kirschner, Gwendolyn K.; Rosignoli, Serena; Guo, Li; Vardanega, Isaia; Imani, Jafargholi; Altmüller, Janine; Milner, Sara G.; Balzano, Raffaella; Nagel, Kerstin A.; Pflugfelder, Daniel; Forestan, Cristian; Bovina, Riccardo; Koller, Robert; Stöcker, Tyll G.; Mascher, Martin; Simmonds, James; Uauy, Cristobal; Schoof, Heiko; Tuberosa, Roberto; Salvi, Silvio; Hochholdinger, Frank
Proceedings of the National Academy of Sciences of the United States of America, 2021 Aug . 118(35), 1-10.
Academic Journal
Johnsen, Marc; Kubacki, Torsten; Yeroslaviz, Assa; Späth, Martin Richard; Mörsdorf, Jannis; Göbel, Heike; Bohl, Katrin; Ignarski, Michael; Meharg, Caroline; Habermann, Bianca; Altmüller, Janine; Beyer, Andreas; Benzing, Thomas; Schermer, Bernhard; Burst, Volker; Müller, Roman-Ulrich
Journal of the American Society of Nephrology. Jul 01, 2025 36(7):1457-1457
Academic Journal
Keil, Philipp; Wulf, Alexander; Kachariya, Nitin; Reuscher, Samira; Hühn, Kristin; Silbern, Ivan; Altmüller, Janine; Keller, Mario; Stehle, Ralf; Zarnack, Kathi; Sattler, Michael; Urlaub, Henning; Sträßer, Katja; Justus Liebig University Giessen
Nucleic Acids Res
Nucleic Acids Research
Nucleic Acids Res. 51, 831-851 (2023)
Nucleic Acids Research
Nucleic Acids Res. 51, 831-851 (2023)
Academic Journal
Pfefferkorn, Anna Maria; Jahn, Lorenz; Gauthier, Patrick T.; Kulow, Vera Anna; Roeles, Johannes; Muller-Botticher, Niklas; Gerhardt, Louisa M. S.; Leiz, Janna; Sarfraz, Sadia; Plumbom, Izabela; Greite, Robert; Lovric, Svjetlana; Gamrekelashvili, Jaba; Limbourg, Florian; Schmitz, Jessica; Brasen, Jan Hinrich; Scheffner, Irina; Sauer, Igor M.; Aigner, Felix; Altmuller, Janine; Conrad, Thomas; Gwinner, Wilfried; Ishaque, Naveed; Fahling, Michael; Schmidt-Ott, Kai M.; Halloran, Philip F.; Ashraf, Muhammad Imtiaz; Hinze, Christian
Academic Journal
Franziska Schnabel; Elisabeth Schuler; Almundher Al‐Maawali; Ankur Chaurasia; Steffen Syrbe; Adila Al‐Kindi; Ganga Bhavani; Anju Shukla; Janine Altmüller; Peter Nürnberg; Siddharth Banka; Philippe M. Campeau; Yun Li; Bernd Wollnik; Gökhan Yiğit
Hum Genet
Schnabel, F, Schuler, E, Al-Maawali, A, Chaurasia, A, Syrbe, S, Al-Kindi, A, Bhavani, G S, Shukla, A,Altmüller , J, Nürnberg, P, Banka, S, Girisha, K M, Li, Y, Wollnik, B & Yigit, G 2023, 'Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly', Human Genetics, vol. 142, no. 4, pp. 543-552. https://doi.org/10.1007/s00439-023-02528-2
Schnabel, F, Schuler, E, Al-Maawali, A, Chaurasia, A, Syrbe, S, Al-Kindi, A, Bhavani, G S, Shukla, A,
Academic Journal
Luisa Averdunk; Khalid Al‐Thihli; Harald Surowy; Hermann‐Josef Lüdecke; Matthias Drechsler; Gökhan Yigit; Lukasz Smorag; Bassam Al Hallak; Yun Li; Janine Altmüller; Tanja Guthoff; Michael Wallot; Peter Nürnberg; Bernd Wollnik; Rami Abou Jamra; Almundher Al‐Maawali; Dagmar Wieczorek
Clinical Genetics. 103:484-491
Academic Journal
Wyler, Emanuel ; Lauber, Chris ; Manukyan, Artür ; Deter, Aylina ; Quedenau, Claudia ; Teixeira Alves, Luiz Gustavo ; Wylezich, Claudia ; Borodina, Tatiana ; Seitz, Stefan ; Altmüller, Janine ; Landthaler, Markus
In Environment International August 2024 190
Academic Journal
Busley, Alexandra Viktoria ; Gutiérrez-Gutiérrez, Óscar ; Hammer, Elke ; Koitka, Fabian ; Mirzaiebadizi, Amin ; Steinegger, Martin ; Pape, Constantin ; Böhmer, Linda ; Schroeder, Henning ; Kleinsorge, Mandy ; Engler, Melanie ; Cirstea, Ion Cristian ; Gremer, Lothar ; Willbold, Dieter ; Altmüller, Janine ; Marbach, Felix ; Hasenfuss, Gerd ; Zimmermann, Wolfram-Hubertus ; Ahmadian, Mohammad Reza ; Wollnik, Bernd ; Cyganek, Lukas
In Cell Reports 23 July 2024 43(7)
Academic Journal
Bögershausen, Nina; Krawczyk, Hannah E.; Jamra, Rami A.; Lin, Sheng‐Jia; Yigit, Gökhan; Hüning, Irina; Polo, Anna M.; Vona, Barbara; Huang, Kevin; Schmidt, Julia; Altmüller, Janine; Luppe, Johannes; Platzer, Konrad; Dörgeloh, Beate B.; Busch, Andreas; Biskup, Saskia; Mendes, Marisa I.; Smith, Desiree E. C.; Salomons, Gajja S.; Zibat, Arne; Bültmann, Eva; Nürnberg, Peter; Spielmann, Malte; Lemke, Johannes R.; Li, Yun; Zenker, Martin; Varshney, Gaurav K.; Hillen, Hauke S.; Kratz, Christian P.; Wollnik, Bernd; 1 Institute of Human Genetics University Medical Center Göttingen Göttingen Germany; 2 Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany; 3 Genes & Human Disease Research Program Oklahoma Medical Research Foundation Oklahoma City Oklahoma USA; 4 Institut für Humangenetik Universitätsklinikum Schleswig‐Holstein Lübeck Germany; 5 MVZ Labor Krone Filialpraxis für Humangenetik Bielefeld Germany; 7 Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany; 10 Department of Pediatric Hematology and Oncology Hannover Medical School Hannover Germany; Busche, Andreas; 11 Institut für Humangenetik Westfälische Wilhelms‐Universität Münster Münster Germany; 12 CeGaT GmbH Center for Genomics and Transcriptomics Tübingen Germany; 13 Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience Amsterdam UMC Amsterdam Netherlands; 14 Institute of Diagnostic and Interventional Neuroradiology Hannover Medical School Hannover Germany; 16 Institute of Human Genetics Otto‐von‐Guericke University Magdeburg Magdeburg Germany; 17 Research Group Structure and Function of Molecular Machines Max Planck Institute for Multidisciplinary Sciences Göttingen Germany
Bögershausen, N, Krawczyk, H E, Jamra, R A, Lin, S-J, Yigit, G K, Hüning, I, Polo, A M, Vona, B, Huang, K, Schmidt, J, Altmüller , J, Luppe, J, Platzer, K, Dörgeloh, B B, Busche, A, Biskup, S, Mendes, M I, Smith, D E C, Salomons, G S, Zibat, A, Bültmann, E, Nürnberg, P, Spielmann, M, Lemke, J R, Li, Y, Zenker, M, Varshney, G K, Hillen, H S, Kratz, C P & Wollnik, B 2022, 'WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly', Human Mutation, vol. 43, no. 10, pp. 1454-1471. https://doi.org/10.1002/humu.24430
Human Mutations
Human Mutations
Academic Journal
Strathmann, Eike; Hölker, Irmgard; Tschernoster, Nikolai; Hosseinibarkooie, Seyyedmohsen; Come, Julien; Martinat, Cecile; Altmüller, Janine; Wirth, Brunhilde
The American Journal of Human Genetics
Academic Journal
Odenthal, Johanna; Dittrich, Sebastian; Ludwig, Vivian; Merz, Tim; Reitmeier, Katrin; Reusch, Björn; Höhne, Martin; Cosgun, Zülfü C.; Hohenadel, Maximilian; Putnik, Jovana; Göbel, Heike; Rinschen, Markus M.; Altmüller, Janine; Koehler, Sybille; Schermer, Bernhard; Benzing, Thomas; Beck, Bodo B.; Brinkkötter, Paul T.; Habbig, Sandra; Bartram, Malte P.
Kidney Int Rep
Odenthal, J, Dittrich, S, Ludwig, V, Merz, T, Reitmeier, K, Reusch, B, Höhne, M, Cosgun, Z C, Hohenadel, M, Putnik, J, Göbel, H, Rinschen, M M,Altmüller , J, Koehler, S, Schermer, B, Benzing, T, Beck, B B, Brinkkötter, P T, Habbig, S & Bartram, M P 2023, 'Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes', Kidney International Reports, vol. 8, no. 2, pp. 317-329. https://doi.org/10.1016/j.ekir.2022.10.024
Odenthal, J, Dittrich, S, Ludwig, V, Merz, T, Reitmeier, K, Reusch, B, Höhne, M, Cosgun, Z C, Hohenadel, M, Putnik, J, Göbel, H, Rinschen, M M,
Academic Journal
Journal of Experimental Botany, 2019 Aug 01. 70(15), 3867-4066.
Academic Journal
Keit Men Wong; Wayne M Jepsen; Stephanie Efthymiou; Vincenzo Salpietro; Meredith Sanchez-Castillo; Janice Yip; Yamna Kriouile; Susann Diegmann; Steffi Dreha-Kulaczewski; Janine Altmüller; Holger Thiele; Peter Nürnberg; Mehran Beiraghi Toosi; Javad Akhondian; Ehsan Ghayoor Karimiani; Hannah Hummel-Abmeier; Brenda Huppke; Henry Houlden; Jutta Gärtner; Reza Maroofian; Peter Huppke
Brain. 145:3022-3034
Academic Journal
Nikopoulou, Chrysa; Kleinenkuhnen, Niklas; Parekh, Swati; Sandoval, Tonantzi; Ziegenhain, Christoph; Schneider, Farina; Giavalisco, Patrick; Donahue, Kat-Folz; Vesting, Anna Juliane; Kirchner, Marcel; Bozukova, Mihaela; Vossen, Christian; Altmüller, Janine; Wunderlich, Thomas; Sandberg, Rickard; Kondylis, Vangelis; Tresch, Achim; Tessarz, Peter
Nature Aging. 3(11):1430-1445
Academic Journal
Shahida Moosa; Farida Chentli; Janine Altmüller; Nina Bögershausen; Peter Nürnberg; Gökhan Yigit; Yun Li; Bernd Wollnik
American Journal of Medical Genetics Part A. 188:606-612
Academic Journal
Schmidt, Julia; Schreiber, Gudrun; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Li, Yun; Kaulfuß, Silke; Funke, Rudolf; Wilken, Bernd; Yigit, Gökhan; Wollnik, Bernd; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany
Eur J Hum Genet
Academic Journal
Schmidt, Julia; Goergens, Jonas; Pochechueva, Tatiana; Kotter, Annika; Schwenzer, Niko; Sitte, Maren; Werner, Gesa; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Isensee, Jörg; Li, Yun; Müller, Christian; Leube, Barbara; Reinhardt, H. Christian; Hucho, Tim; Salinas, Gabriela; Helm, Mark; Jachimowicz, Ron D.; Wieczorek, Dagmar; Kohl, Tobias; Lehnart, Stephan E.; Yigit, Gökhan; Wollnik, Bernd; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Department I of Internal Medicine, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Heart Research Center Göttingen, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany; Institute of Pharmaceutical and Biomedical Sciences, Johannes Gutenberg-University Mainz, Mainz, Germany; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany; NGS-Integrative Genomics Core Unit (NIG), Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Department of Anesthesiology and Intensive Care Medicine, Translational Pain Research, University Hospital of Cologne, Cologne, Germany; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany; Department of Hematology and Stem Cell Transplantation, University Hospital Essen, University Duisburg-Essen, German Cancer Consortium (DKTK Partner Site Essen), Essen, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; DZHK (German Centre for Cardiovascular Research), Göttingen, Germany; Transatlantic Network of Excellence CURE-PLaN, Fondation Leducq, Paris, France
Hum Genet
Human Genetics
Human Genetics
Academic Journal
Heger, Jan-Michel; Mammadova, Laman; Mattlener, Julia; Sobesky, Sophia; Cirillo, Melita; Altmüller, Janine; Kirst, Elisabeth; Reinke, Sarah; Klapper, Wolfram; Bröckelmann, Paul J.; Ferdinandus, Justin; Kaul, Helen; Schneider, Gundolf; Schneider, Jessica; Schleifenbaum, Julia Katharina; Ullrich, Roland T.; Freihammer, Max; Awerkiew, Sabine; Lohmann, Mia; Klein, Florian; Nürnberg, Peter; Hallek, Michael; Rossi, Davide; Mauz-Körholz, Christine; Gattenlöhner, Stefan; Bräuninger, Andreas; Borchmann, Peter; von Tresckow, Bastian; Borchmann, Sven
Journal of Clinical Oncology. Dec 10, 2024 42(35):4218-4230
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