检索结果 - Schenck, Annette
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Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar at... 由 Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Schenck, Annette, van de Warrenburg, Bart P
出版 2020Text -
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Protein complexes containing CYFIP/Sra/PIR121 coordinate ARF1 and RAC1 signaling during clathrin-AP-1-coated carrier biogenesis at the TGN 由 ANITEI, Mihaela, STANGE, Christoph, PARSHINA, Irina, BAUST, Thorsten, SCHENCK, Annette, RAPOSO, Graça, KIRCHHAUSEN, Tomas, HOFLACK, Bernard
出版 2010Text -
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Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies 由 Bouman, Arianne, Geelen, Joyce M., Kummeling, Joost, Schenck, Annette, van der Zwan, Yvonne G., Klein, Willemijn M., Kleefstra, Tjitske
出版 2024Text -
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Cross-species models of attention-deficit/hyperactivity disorder and autism spectrum disorder: lessons from CNTNAP2, ADGRL3, and PARK2 由 Dalla Vecchia, Elisa, Mortimer, Niall, Palladino, Viola S., Kittel-Schneider, Sarah, Lesch, Klaus-Peter, Reif, Andreas, Schenck, Annette, Norton, William H.J.
出版 2019Text -
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Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila 由 Fenckova, Michaela, Muha, Villo, Mariappa, Daniel, Catinozzi, Marica, Czajewski, Ignacy, Blok, Laura E. R., Ferenbach, Andrew T., Storkebaum, Erik, Schenck, Annette, van Aalten, Daan M. F.
出版 2022Text