Výsledky vyhledávání - Schuelke, Markus
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Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation Autor von Renesse, Anja, Morales-Gonzalez, Susanne, Gill, Esther, Salomons, Gajja S., Stenzel, Werner, Schuelke, Markus
Vydáno 2018Text -
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A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2 Autor Paisdzior, Sarah, Knierim, Ellen, Kleinau, Gunnar, Biebermann, Heike, Krude, Heiko, Straussberg, Rachel, Schuelke, Markus
Vydáno 2021Text -
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CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study Autor Ohlraun, Stephanie, Wollersheim, Tobias, Weiß, Claudia, Martus, Peter, Weber-Carstens, Steffen, Schmitz, Dietmar, Schuelke, Markus
Vydáno 2013Text -
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Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome) Autor Brinckmann, Anja, Weiss, Claudia, Wilbert, Friederike, von Moers, Arpad, Zwirner, Angelika, Stoltenburg-Didinger, Gisela, Wilichowski, Ekkehard, Schuelke, Markus
Vydáno 2010Text -
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Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy Autor Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita
Vydáno 2016Text -
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