Výsledky vyhledávání - Knierim, Ellen

Systematic Comparison of Three Methods for Fragmentation of Long-Range PCR Products for Next Generation Sequencing Autor Knierim, Ellen, Lucke, Barbara, Schwarz, Jana Marie, Schuelke, Markus, Seelow, Dominik

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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

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MutationDistiller: user-driven identification of pathogenic DNA variants Autor Hombach, Daniela, Schuelke, Markus, Knierim, Ellen, Ehmke, Nadja, Schwarz, Jana Marie, Fischer-Zirnsak, Björn, Seelow, Dominik

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Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum Autor Buelow, Markus, Süßmuth, David, Smith, Laurie D., Aryani, Omid, Castiglioni, Claudia, Stenzel, Werner, Bertini, Enrico, Schuelke, Markus, Knierim, Ellen

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Modified Zipper Method, a Promising Treatment Option in Severe Pediatric Immune-Mediated Neurologic Disorders Autor Nikolaus, Marc, Kühne, Fabienne, Tietze, Anna, Thumfart, Julia, Kempf, Caroline, Gratopp, Alexander, Knierim, Ellen, Bittigau, Petra, Kaindl, Angela M.

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Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) Autor Hu, Hao, Hübner, Christoph, Lukacs, Zoltan, Musante, Luciana, Gill, Esther, Wienker, Thomas F, Ropers, Hans-Hilger, Knierim, Ellen, Schuelke, Markus

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Atypical NMDA receptor expression in a diffuse astrocytoma, MYB- or MYBL1-altered as a trigger for autoimmune encephalitis Autor Nikolaus, Marc, Koch, Arend, Stenzel, Werner, Elezkurtaj, Sefer, Sahm, Felix, Tietze, Anna, Stöffler, Laura, Kreye, Jakob, Hernáiz Driever, Pablo, Thomale, Ulrich W., Kaindl, Angela M., Schuelke, Markus, Knierim, Ellen

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Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies Autor Wegener-Panzer, Andreas, Cleaveland, Robert, Wendel, Eva-Maria, Baumann, Matthias, Bertolini, Annikki, Häusler, Martin, Knierim, Ellen, Reiter-Fink, Edith, Breu, Markus, Sönmez, Özcan, Della Marina, Adela, Peters, Renate, Lechner, Christian, Piepkorn, Martin, Roll, Claudia, Höftberger, Romana, Leypoldt, Frank, Reindl, Markus, Rostásy, Kevin

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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures Autor Knierim, Ellen, Hirata, Hiromi, Wolf, Nicole I., Morales-Gonzalez, Susanne, Schottmann, Gudrun, Tanaka, Yu, Rudnik-Schöneborn, Sabine, Orgeur, Mickael, Zerres, Klaus, Vogt, Stefanie, van Riesen, Anne, Gill, Esther, Seifert, Franziska, Zwirner, Angelika, Kirschner, Janbernd, Goebel, Hans Hilmar, Hübner, Christoph, Stricker, Sigmar, Meierhofer, David, Stenzel, Werner, Schuelke, Markus

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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy Autor Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.

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