Hasil Pencarian - Simon Edvardson

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  1. 1
    A deleterious variant of INTS1 leads to disrupted sleep–wake cycles

    A deleterious variant of INTS1 leads to disrupted sleep–wake cycles oleh Shir Confino, Yair Wexler, Adar Medvetzky, Yotam Elazary, Zohar Ben-Moshe, Joel Reiter, Talya Dor, Simon Edvardson, Gali Prag, Tamar Harel, Yoav Gothilf

    Diterbitkan 2024-08-01
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  2. 2
    Nociception and pain in humans lacking a functional TRPV1 channel

    Nociception and pain in humans lacking a functional TRPV1 channel oleh 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

    Diterbitkan 2023-02-01
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  3. 3
    A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

    A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. oleh Simon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, Avraham Shaag, Yang-In Yim, Shamir Zenvirt, Chaim Jalas, Suzanne Lesage, Alexis Brice, Albert Taraboulos, Klaus H Kaestner, Lois E Greene, Orly Elpeleg

    Diterbitkan 2012-01-01
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  4. 4
    WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

    WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy oleh 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

    Diterbitkan 2023-11-01
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  5. 5
    A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment

    A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment oleh 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

    Diterbitkan 2023-09-01
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