检索结果 - Elke Debackere

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    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD 由 Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley, Jack D. Rubien, Christopher Altheimer, Myra Peetermans, Elke Debackere, Olivier Vanakker, Sandra Janssens, Jonathan Baets, Kristof Verhoeven, Martin Lammens, Sofie Symoens, Boél De Paepe, Sami J. Barmada, James Shorter, Jan De Bleecker, Elke Bogaert, Bart Dermaut

    出版 2023
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    Artigo
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    Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

    Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) 由 Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, Jan De Bleecker, Patrick Santens, Paul Boon, Guy Laureys, Tessa Kerre

    出版 2022
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    Artigo
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