Hasil Pencarian - Signe Mosegaard

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  1. 1
    Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

    Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism oleh Signe Mosegaard, Graziana Dipace, Peter Bross, Jasper Carlsen, Niels Gregersen, Rikke Katrine Jentoft Olsen

    Diterbitkan 2020-05-01
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  2. 2
    FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

    FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening oleh Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K. J. Olsen, Katrin Õunap

    Diterbitkan 2019-09-01
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  3. 3
    Human inborn errors of long‐chain fatty acid oxidation show impaired inflammatory responses to TLR4‐ligand LPS

    Human inborn errors of long‐chain fatty acid oxidation show impaired inflammatory responses to TLR4‐ligand LPS oleh Signe Mosegaard, Krishna S. Twayana, Simone W. Denis, Jeffrey Kroon, Bauke V. Schomakers, Michel vanWeeghel, Riekelt H. Houtkooper, Rikke K. J. Olsen, Christian K. Holm

    Diterbitkan 2024-09-01
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  4. 4
    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics oleh 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

    Diterbitkan 2022-04-01
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