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1تقرير
المؤلفون: Bearden, I., Buchakchiev, V., Buhl, A., Dufke, L., Isidori, T., Jia, S., Kozhuharov, V., Loizides, C., Muller, H., Pfeiffer, D., Rauch, M., Rusu, A., Simeonov, R.
مصطلحات موضوعية: Physics - Instrumentation and Detectors
URL الوصول: http://arxiv.org/abs/2403.14577
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2دورية أكاديمية
المؤلفون: Figueroa, Karla P., Gross, CasparAff2, Aff3, Buena-Atienza, ElenaAff2, Aff3, Paul, Sharan, Gandelman, Mandi, Kakar, NaseebullahAff4, Aff5, Sturm, Marc, Casadei, NicolasAff2, Aff3, Admard, JakobAff2, Aff3, Park, Joohyun, Zühlke, Christine, Hellenbroich, Yorck, Pozojevic, Jelena, Balachandran, Saranya, Händler, Kristian, Zittel, Simone, Timmann, Dagmar, Erdlenbruch, Friedrich, Herrmann, Laura, Feindt, Thomas, Zenker, Martin, Klopstock, ThomasAff10, Aff11, Aff12, Dufke, Claudia, Scoles, Daniel R., Koeppen, Arnulf, Spielmann, MalteAff4, Aff14, Riess, OlafAff2, Aff3, IDs41588024017195_cor27, Ossowski, StephanAff2, Aff3, Aff15, Haack, Tobias B.Aff2, Aff3, Pulst, Stefan M.Aff1, Aff16, IDs41588024017195_cor30
المصدر: Nature Genetics. 56(6):1080-1089
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3تقرير
المؤلفون: Aehle, M., Alme, J., Arata, C., Arsene, I., Bearden, I., Bodova, T., Borshchov, V., Bourrion, O., Bregant, M., Brink, A. van den, Buchakchiev, V., Buhl, A., Chujo, T., Dufke, L., Eikeland, V., Fasel, M., Gauger, N., Gautam, A., Ghimouz, A., Goto, Y., Guernane, R., Hachiya, T., Hassan, H., He, L., Helstrup, H., Huhta, L., Inaba, M., Inukai, T., Isidori, T., Jonas, F., Kawaguchi, T., Keidel, R., Kim, M., Kozhuharov, V., Kumaoka, T., Kusch, L., Loizides, C., Melikyan, Y., Miake, Y., Minafra, N., Nystrand, J., Novitzky, N., Øekland, T., Oyama, K., Park, H., Park, J., Pascal, I., Peitzmann, T., Protsenko, M., Räsänen, S. S., Rarbi, F., Rauch, M., Rehman, A., Richter, M., Röhrich, D., Røed, K., Rusu, A., Rytkönen, H., Sakai, S., Sato, K., Schilling, A., Shimizu, S., Shimomura, M., Simeonov, R., Solheim, E., Sugitate, T., Tambave, G., Takaki, D. Tapia, Tourres, D., Tymchuk, I., Yi, J., Yin, Z., Ullaland, K., Yang, S., Yokoo, T., Zhou, D., Zillien, S.
المصدر: JINST 19 P07006 (2024)
مصطلحات موضوعية: Physics - Instrumentation and Detectors
URL الوصول: http://arxiv.org/abs/2311.07413
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4دورية أكاديمية
المؤلفون: Pellerin, DavidAff1, Aff2, Heindl, Felix, Traschütz, AndreasAff4, Aff5, Rujescu, Dan, Hartmann, Annette M., Brais, BernardAff1, Aff7, Aff8, Houlden, Henry, Dufke, Claudia, Riess, Olaf, Haack, Tobias, Strupp, Michael, Synofzik, MatthisAff4, Aff5, IDs0041502412229z_cor12
المصدر: Journal of Neurology. 271(5):2886-2892
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5دورية أكاديمية
المؤلفون: Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri, Sergio Oller, Mojan Parvaz, Laura Tzeplaeff, Laura Pasetto, Marie Gebelin, Melanie Ebbing, Constantin Holzapfel, Stefano Fabrizio Columbro, Serena Scozzari, Johanna Knöferle, Isabell Cordts, Antonia F. Demleitner, Marcus Deschauer, Claudia Dufke, Marc Sturm, Qihui Zhou, Pavol Zelina, Emma Sudria-Lopez, Tobias B. Haack, Sebastian Streb, Magdalena Kuzma-Kozakiewicz, Dieter Edbauer, R. Jeroen Pasterkamp, Endre Laczko, Hubert Rehrauer, Ralph Schlapbach, Christine Carapito, Valentina Bonetto, Stefan Bonn, Paul Lingor
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-23 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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6دورية أكاديمية
المؤلفون: Olaf Riess, Marc Sturm, Benita Menden, Alexandra Liebmann, German Demidov, Dennis Witt, Nicolas Casadei, Jakob Admard, Leon Schütz, Stephan Ossowski, Stacie Taylor, Sven Schaffer, Christopher Schroeder, Andreas Dufke, Tobias Haack
المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-10 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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7دورية أكاديمية
المؤلفون: Schroeder, ChristopherAff1, Aff2, Faust, Ulrike, Krauße, Luisa, Liebmann, Alexandra, Abele, Michael, Demidov, German, Schütz, Leon, Kelemen, Olga, Pohle, Alexandra, Gauß, Silja, Sturm, Marc, Roggia, Cristiana, Streiter, Monika, Buchert, Rebecca, Armenau-Ebinger, Sorin, Nann, Dominik, Beschorner, Rudi, Handgretinger, Rupert, Ebinger, Martin, Lang, Peter, Holzer, Ursula, Skokowa, Julia, Ossowski, Stephan, Haack, Tobias B., Mau-Holzmann, Ulrike A., Dufke, Andreas, Riess, OlafAff1, Aff2, Aff7, Brecht, Ines B.Aff3, IDs41431023014238_cor28
المصدر: European Journal of Human Genetics. 31(10):1139-1146
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8دورية أكاديمية
المؤلفون: Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P, Filges, Isabel, Sparks, Teresa N, Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C, Collardeau‐Frachon, Sophie, Dempsey, Esther A, Dufke, Andreas, Duyzend, Michael Henri, Ghosh, Mirna, Giordano, Jessica L, Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G, Ladewig, Markus S, Munoz‐Torres, Monica C, Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A, Wapner, Ronald J, Zemet, Roni, Haendel, Melissa A, Robinson, Peter N
المصدر: American Journal of Medical Genetics Part C Seminars in Medical Genetics. 190(2)
مصطلحات موضوعية: Genetics, Human Genome, Clinical Research, Congenital Structural Anomalies, Prevention, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Reproductive health and childbirth, Good Health and Well Being, Infant, Newborn, Humans, Female, Pregnancy, Placenta, Computational Biology, Phenotype, Rare Diseases, Exome Sequencing, HPO, human phenotype ontology, GA4GH Phenopacket, prenatal diagnosis, fetal pathology, prenatal phenotyping, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9m25x832
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9دورية أكاديميةShort-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
المؤلفون: Fleszar, ZofiaAff1, Aff2, Dufke, Claudia, Sturm, Marc, Schüle, RebeccaAff1, Aff2, Aff4, Schöls, LudgerAff1, Aff2, Aff5, Haack, Tobias B.Aff3, Aff5, Synofzik, MatthisAff1, Aff2, IDs00415023117458_cor7
المصدر: Journal of Neurology. 270(8):4112-4117
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10دورية أكاديمية
المؤلفون: Caldi Gomes, Lucas, Hänzelmann, SonjaAff2, Aff3, Aff4, Hausmann, FabianAff3, Aff4, Khatri, RobinAff3, Aff4, Oller, SergioAff3, Aff4, Parvaz, Mojan, Tzeplaeff, Laura, Pasetto, Laura, Gebelin, Marie, Ebbing, MelanieAff3, Aff4, Holzapfel, ConstantinAff3, Aff4, Columbro, Stefano Fabrizio, Scozzari, Serena, Knöferle, Johanna, Cordts, Isabell, Demleitner, Antonia F., Deschauer, Marcus, Dufke, Claudia, Sturm, Marc, Zhou, QihuiAff8, Aff9, Zelina, Pavol, Sudria-Lopez, Emma, Haack, Tobias B.Aff7, Aff11, Streb, Sebastian, Kuzma-Kozakiewicz, Magdalena, Edbauer, DieterAff8, Aff9, Pasterkamp, R. Jeroen, Laczko, Endre, Rehrauer, Hubert, Schlapbach, Ralph, Carapito, Christine, Bonetto, Valentina, Bonn, StefanAff3, Aff4, IDs4146702449196y_cor33, Lingor, PaulAff1, Aff8, Aff9, IDs4146702449196y_cor34
المصدر: Nature Communications. 15(1)