Search Results - Simon Edvardson
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A deleterious variant of INTS1 leads to disrupted sleep–wake cycles by Shir Confino, Yair Wexler, Adar Medvetzky, Yotam Elazary, Zohar Ben-Moshe, Joel Reiter, Talya Dor, Simon Edvardson, Gali Prag, Tamar Harel, Yoav Gothilf
Published in Disease Models & Mechanisms (2024-08-01)Get full text
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Nociception and pain in humans lacking a functional TRPV1 channel by Ben Katz, Rachel Zaguri, Simon Edvardson, Channa Maayan, Orly Elpeleg, Shaya Lev, Elyad Davidson, Maximilian Peters, Shlomit Kfir-Erenfeld, Esther Berger, Shifa Ghazalin, Alexander M. Binshtok, Baruch Minke
Published in The Journal of Clinical Investigation (2023-02-01)Get full text
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WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy by Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti
Published in Annals of Clinical and Translational Neurology (2023-11-01)Get full text
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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment by Xiaolin Lin, Wei Wang, Mingyi Yang, Nadirah Damseh, Mirta Mittelstedt Leal de Sousa, Fadi Jacob, Anna Lång, Elise Kristiansen, Marco Pannone, Miroslava Kissova, Runar Almaas, Anna Kuśnierczyk, Richard Siller, Maher Shahrour, Motee Al-Ashhab, Bassam Abu-Libdeh, Wannan Tang, Geir Slupphaug, Orly Elpeleg, Stig Ove Bøe, Lars Eide, Gareth J. Sullivan, Johanne Egge Rinholm, Hongjun Song, Guo-li Ming, Barbara van Loon, Simon Edvardson, Jing Ye, Magnar Bjørås
Published in Genome Biology (2023-09-01)Get full text
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