Search Results - Merel A. Post

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    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum by Bibiche den Hollander, Bibiche den Hollander, Bibiche den Hollander, Anne Rasing, Merel A. Post, Merel A. Post, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Michèl A. Willemsen, Dirk J. Lefeber, Dirk J. Lefeber, Dirk J. Lefeber, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek

    Published in Frontiers in Neurology (2021-06-01)
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  2. 2

    The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner by Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto

    Published in Cells (2022-11-01)
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