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1دورية أكاديمية
المؤلفون: Maximilian Penkl, Johannes A. Mayr, René G. Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt
المصدر: Metabolites, Vol 14, Iss 4, p 238 (2024)
مصطلحات موضوعية: ACO2 mutation, triheptanoin, citric acid cycle, anaplerotic therapy, case report, Microbiology, QR1-502
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G. Feichtinger, Johannes A. Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
المصدر: Genes, Vol 14, Iss 12, p 2174 (2023)
مصطلحات موضوعية: MTM1 gene, myotubularin, X-linked myotubular myopathy, centronuclear myopathy, genotype–phenotype correlations, DeepGestalt technology, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Barbara Voraberger, Johannes A. Mayr, Nadja Fratzl-Zelman, Stéphane Blouin, Suma Uday, Robert Kopajtich, Marijke Koedam, Helena Hödlmayr, Saskia B. Wortmann, Bernhard Csillag, Holger Prokisch, Bram C. J. van der Eerden, Ahmed El-Gazzar, Wolfgang Högler
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: ASCC1, SMABF2, bone fragility, mesenchymal stromal cell, muscular atrophy, osteoblastogenesis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Ahmed El‐Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn, Goran Mitulović, Veronika Reiterer, Margot Haun, Michaela M Mayr, Johannes A Mayr, Susanne Kimeswenger, Oliver Drews, Vrinda Saraff, Nick Shaw, Nadja Fratzl‐Zelman, Sofie Symoens, Hesso Farhan, Wolfgang Högler
المصدر: EMBO Molecular Medicine, Vol 15, Iss 4, Pp n/a-n/a (2023)
مصطلحات موضوعية: autophagy, endoplasmic reticulum, osteogenesis imperfecta, SEC16B, type I collagen, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr
المصدر: Metabolites, Vol 13, Iss 11, p 1141 (2023)
مصطلحات موضوعية: PPA1, pyrophosphate, galactosemia, galactose, hyperbilirubinemia, inborn metabolic disorder, Microbiology, QR1-502
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
مصطلحات موضوعية: RNA-seq, Genetic diagnostics, Mendelian diseases, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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7دورية أكاديمية
المؤلفون: Alexandra Astner-Rohracher, Matthias Mauritz, Markus Leitinger, Fabio Rossini, Gudrun Kalss, Caroline Neuray, Elisabeth Retter, Saskia B. Wortmann, Melanie T. Achleitner, Johannes A. Mayr, Eugen Trinka
المصدر: Frontiers in Neurology, Vol 13 (2023)
مصطلحات موضوعية: new-onset refractory status epilepticus (NORSE), FASTKD2 mutation, genetic epilepsies, mitochondrial disease, drug-resistant epilepsy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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8دورية أكاديمية
المصدر: Genes, Vol 14, Iss 6, p 1217 (2023)
مصطلحات موضوعية: NRXN3, neurodevelopmental disorder, autism, novel disease, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
مصطلحات موضوعية: ATAD3A, Mitochondria, Disease, Autosomal recessive, Autophagy, Neurogenesis, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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10دورية أكاديمية
المؤلفون: Gizem Inak, Agnieszka Rybak-Wolf, Pawel Lisowski, Tancredi M. Pentimalli, René Jüttner, Petar Glažar, Karan Uppal, Emanuela Bottani, Dario Brunetti, Christopher Secker, Annika Zink, David Meierhofer, Marie-Thérèse Henke, Monishita Dey, Ummi Ciptasari, Barbara Mlody, Tobias Hahn, Maria Berruezo-Llacuna, Nikos Karaiskos, Michela Di Virgilio, Johannes A. Mayr, Saskia B. Wortmann, Josef Priller, Michael Gotthardt, Dean P. Jones, Ertan Mayatepek, Werner Stenzel, Sebastian Diecke, Ralf Kühn, Erich E. Wanker, Nikolaus Rajewsky, Markus Schuelke, Alessandro Prigione
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-22 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723