Risultati della ricerca - Knierim, Ellen

Systematic Comparison of Three Methods for Fragmentation of Long-Range PCR Products for Next Generation Sequencing di 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 di 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 di 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 di 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 di 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) di 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 di 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 di 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 di 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 di 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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