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المؤلفون: Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M.S. Mancini, Jacques C. Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denommé-Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna C.E. Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emílie Vyhnálková, Lukáš Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Séverine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frédéric Laumonnier, Seth I. Berger, Ann C.M. Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krüger, Raphaël Margueron, Stéphane Bézieau, Jeremie Poschmann, Bertrand Isidor

المساهمون: Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Universität Greifswald - University of Greifswald, Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Génétique et Biologie du Développement, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Erasmus University Medical Center [Rotterdam] (Erasmus MC), University Medical Center [Utrecht], GeneDx [Gaithersburg, MD, USA], Hadassah Hebrew University Medical Center [Jerusalem], Emory University School of Medicine, Emory University [Atlanta, GA], Laboratoire de Biologie Neurovasculaire Intégrée [Angers] (CNRS UMR6214 - INSERM U771), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Tennessee System, Stanford University, Duke University Medical Center, University of Alabama at Birmingham [ Birmingham] (UAB), Columbia University [New York], Charles University [Prague] (CU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Baylor College of Medicine (BCM), Baylor University, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Unité neurovasculaire et troubles cognitifs (Neuvacod), Université de Poitiers, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence Maladies Rares CLAD-Ouest [Rennes], Children's National Medical Center, National Human Genome Research Institute (NHGRI), Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Greifswald University Hospital, Research reported in this manuscript was supported by the NIH Common Fund through the Office of Strategic Coordination/Office of the NIH Director under award number U01HG007672 to V.S. Further support was obtained by funding from the German Research Foundation (SFBTR 167 A4, GRK2719 B4) to E.K, Clinical Genetics

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
American Journal of Human Genetics, 109(2), 361-372. Cell Press
Am J Hum Genet

مصطلحات موضوعية: Male, Heterozygote, Proteasome Endopeptidase Complex, tumor, Adolescent, T-Lymphocytes, Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio], Mutation, Missense, UPS, ubiquitin-proteasome system, chromatin remodeling, Histones, SDG 3 - Good Health and Well-being, Loss of Function Mutation, Report, ubiquitin, Genetics, Humans, cancer, Family, BAP1, Child, deubiquitination, Germ-Line Mutation, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, neurodevelopment, BRCA1 Protein, Tumor Suppressor Proteins, Ubiquitination, Infant, Chromatin Assembly and Disassembly, BRCA1, Chromatin, Gene Expression Regulation, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, histone 2A, Female, Host Cell Factor C1, Ubiquitin Thiolesterase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30291939060519e6db8780d53aed2bef
https://doi.org/10.1016/j.ajhg.2021.12.011

المؤلفون: Julia Dietz, Christiana Graf, Christoph P. Berg, Kerstin Port, Katja Deterding, Peter Buggisch, Kai-Henrik Peiffer, Johannes Vermehren, Georg Dultz, Andreas Geier, Florian P. Reiter, Tony Bruns, Jörn M. Schattenberg, Elena Durmashkina, Thierry Gustot, Christophe Moreno, Janina Trauth, Thomas Discher, Janett Fischer, Thomas Berg, Andreas E. Kremer, Beat Müllhaupt, Stefan Zeuzem, Christoph Sarrazin, C. Antoni, A. Teufel, R. Vogelmann, M. Ebert, J. Balavoine, E. Giostra, M. Berning, J. Hampe, T. Boettler, C. Neumann-Haefelin, R. Thimme, A. De Gottardi, A. Rauch, N. Semmo, V. Ellenrieder, M. Gress, A. Herrmann, A. Stallmach, D. Hoffmann, U. Protzer, A. Kodal, M. Löbermann, T. Götze, V. Keitel-Anselmino, C.M. Lange, R. Zachoval, J. Mayerle, A. Maieron, P. Michl, U. Merle, D. Moradpour, J.-P. Chave, M. Muche, H.-J. Epple, M. Müller-Schilling, F. Kocheise, T. Müller, F. Tacke, E. Roeb, J. Rissland, M. Krawczyk, P. Schulze, D. Semela, U. Spengler, J. Rockstroh, C.P. Strassburg, J. Siebler, J. Schulze zur Wiesch, F. Piecha, J. von Felden, S. Jordan, A. Lohse, M. Sprinzl, P. Galle, R. Stauber, B. Strey, W. Steckstor, W. Schmiegel, N.H. Brockmeyer, A. Canbay, C. Trautwein, F. Uschner, J. Trebicka, T. Weber, H. Wedemeyer, M. Cornberg, M. Manns, P. Wietzke-Braun, R. Günther, K. Willuweit, G. Hilgard, H. Schmidt, E. Zizer, J. Backhus, T. Seufferlein, O. Al-Taie, W. Angeli, S. Beckebaum, A. Erhardt, A. Garrido-Lüneburg, H. Gattringer, D. Genné, M. Gschwantler, F. Gundling, S. Hametner, R. Schöfl, S. Haag, H. Heinzow, T. Heyer, C. Hirschi, A. Jussios, S. Kanzler, N. Kordecki, M. Kraus, U. Kullig, S. Wollschläger, L. Magenta, B. Terziroli Beretta-Piccoli, M. Menges, L. Mohr, K. Muehlenberg, C. Niederau, B. Paulweber, A. Petrides, M. Pinkernell, R. Piso, W. Rambach, L. Reinhardt, M. Reiser, B. Riecken, A. Rieke, J. Roth, M. Schelling, P. Schlee, A. Schneider, D. Scholz, E. Schott, M. Schuchmann, U. Schulten-Baumer, A. Seelhoff, A. Stich, F. Stickel, J. Ungemach, E. Walter, A. Weber, H. Wege, T. Winzer, W. Abels, M. Adler, F. Audebert, C. Baermann, E. Bästlein, R. Barth, K. Barthel, W. Becker, J. Behrends, J. Benninger, F. Berger, D. Berzow, T. Beyer, M. Bierbaum, O. Blaukat, A. Bodtländer, G. Böhm, N. Börner, U. Bohr, B. Bokemeyer, H.R. Bruch, D. Bucholz, P. Buggisch, K. Matschenz, J. Petersen, O. Burkhard, N. Busch, C. Chirca, R. Delker, J. Diedrich, M. Frank, M. Diehl, A.O. Tal, M. Schneider, A. Dienethal, P. Dietel, N. Dikopoulos, M. Dreck, F. Dreher, L. Drude, K. Ende, U. Ehrle, K. Baumgartl, F. Emke, R. Glosemeyer, G. Felten, D. Hüppe, J. Fischer, U. Fischer, D. Frederking, B. Frick, G. Friese, B. Gantke, P. Geyer, H.R. Schwind, M. Glas, T. Glaunsinger, F. Goebel, U. Göbel, B. Görlitz, R. Graf, H. Gruber, C. Hartmann, C. Klag, G. Härter, M. Herder, T. Heuchel, S. Heuer, H. Hinrichsen, B. Seegers, K.-H. Höffl, H. Hörster, J.-U. Sonne, W.P. Hofmann, F. Holst, M. Hunstiger, A. Hurst, E. Jägel-Guedes, C. John, M. Jung, B. Kallinowski, B. Kapzan, W. Kerzel, P. Khaykin, M. Klarhof, U. Klüppelberg, Wolfratshausen, K. Klugewitz, B. Knapp, U. Knevels, T. Kochsiek, A. Körfer, A. Köster, M. Kuhn, A. Langekamp, B. Künzig, R. Link, M. Littman, H. Löhr, T. Lutz, P. Gute, G. Knecht, U. Lutz, D. Mainz, I. Mahle, P. Maurer, S. Mauss, C. Mayer, H. Möller, R. Heyne, D. Moritzen, M. Mroß, M. Mundlos, U. Naumann, O. Nehls, K, R. Ningel, A. Oelmann, H. Olejnik, K. Gadow, E. Pascher, A. Philipp, M. Pichler, F. Polzien, R. Raddant, M. Riedel, S. Rietzler, M. Rössle, W. Rufle, A. Rump, C. Schewe, C. Hoffmann, D. Schleehauf, W. Schmidt, G. Schmidt-Heinevetter, J. Schmidtler-von Fabris, L. Schneider, A. Schober, S. Niehaus-Hahn, J. Schwenzer, T. Seidel, G. Seitel, C. Sick, K. Simon, D. Stähler, F. Stenschke, H. Steffens, K. Stein, M. Steinmüller, T. Sternfeld, K. Svensson, W. Tacke, G. Teuber, K. Teubner, J. Thieringer, A. Tomesch, U. Trappe, J. Ullrich, G. Urban, S. Usadel, A. von Lucadou, F. Weinberger, M. Werheid-Dobers, P. Werner, T. Winter, E. Zehnter, A. Zipf

المصدر: JHEP Reports, Vol 6, Iss 7, Pp 101072- (2024)

مصطلحات موضوعية: Direct-acting antivirals, Hepatitis C Virus, rare HCV genotypes, resistance-associated substitutions, treatment response, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555924000764; https://doaj.org/toc/2589-5559

URL الوصول: https://doaj.org/article/b3022f1b69714a74840eba3a2ca0a825

المؤلفون: E Moraes, S Schwanz, L Bierhals, S Lanius, G Bohm

المصدر: Asian Journal of Agricultural and Horticultural Research. 1:1-10

مصطلحات موضوعية: Horticulture, biology, Chemistry, Compost, engineering, Substrate (chemistry), Lactuca, General Medicine, engineering.material, biology.organism_classification

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::43ac8f1289f2f74f4f0580050c9bc68e
https://doi.org/10.9734/ajahr/2018/40262

المؤلفون: G Bohm, E Moraes, T Morsele, S Lanius, S Schwanz

المصدر: Asian Journal of Soil Science and Plant Nutrition. 2:1-8

مصطلحات موضوعية: Horticulture, biology, Chemistry, Physical chemical, Mill, General Medicine, Eruca, biology.organism_classification

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d1f89d06ba3e2c3671df3a5e1d4c9c38
https://doi.org/10.9734/ajsspn/2017/38822

المؤلفون: G. Bohm, T. Oliveira, E. Bohm, P. Sanches

المصدر: International Journal of Plant & Soil Science. 9:1-9

مصطلحات موضوعية: Chemistry, Environmental chemistry, Microorganism, Helianthus annuus, General Medicine, Sludge

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::04718327375e684849b5623a69c13513
https://doi.org/10.9734/ijpss/2016/22570

المؤلفون: G Bohm, R Karsburg, C Heidrich, E Bohm, R Machado

المصدر: American Journal of Experimental Agriculture. 10:1-7

مصطلحات موضوعية: biology, Environmental chemistry, Environmental science, Raphanus, General Medicine, biology.organism_classification, Sludge

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5d0204253e519009e11f68a40d59c53c
https://doi.org/10.9734/ajea/2016/21730

المؤلفون: B. C. Feier, R. Veres, S. Ilea, G. Bohm-Revesz

المصدر: IOP Conference Series: Materials Science and Engineering. 898:012027

مصطلحات موضوعية: Data acquisition, business.industry, Computer science, business, Computer hardware

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8369f3b76bba18239ad4b20ccbd18747
https://doi.org/10.1088/1757-899x/898/1/012027

المؤلفون: G. Bohm

المصدر: 24th European Meeting of Environmental and Engineering Geophysics.

مصطلحات موضوعية: Physics, Travel time, Optics, Transverse isotropy, business.industry, Isotropy, Reflection (physics), Ray tracing (graphics), Tomography, business, Anisotropy, Refraction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::829ad35598fb63af09713fe6bde54c1b
https://doi.org/10.3997/2214-4609.201802506

المؤلفون: G. Bohm, G. Zech

المصدر: Nuclear instruments & methods in physics research / A 748, 1-6 (2014). doi:10.1016/j.nima.2014.02.021

مصطلحات موضوعية: FOS: Computer and information sciences, Physics, Nuclear and High Energy Physics, Poisson binomial distribution, FOS: Physical sciences, Probability and statistics, Poisson distribution, Methodology (stat.ME), symbols.namesake, Compound Poisson distribution, Physics - Data Analysis, Statistics and Probability, Compound Poisson process, Statistics, symbols, Zero-inflated model, ddc:530, Poisson regression, Fractional Poisson process, Instrumentation, Statistics - Methodology, Data Analysis, Statistics and Probability (physics.data-an)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b798ee0ddffaed721e7ce4701b84e0
https://doi.org/10.1016/j.nima.2014.02.021