Risultati della ricerca - Teresa M. Neuhann

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  1. 1
    Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review

    Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review di Hanna Lausmann, Martin Zacharias, Teresa M. Neuhann, Melanie K. Locher, Karl F. Schettler

    Pubblicazione 2022-07-01
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  2. 2
    Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants

    Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants di Ariane Hallermayr, Ariane Hallermayr, Ariane Hallermayr, Teresa M. Neuhann, Verena Steinke-Lange, Verena Steinke-Lange, Florentine Scharf, Andreas Laner, Roland Ewald, Ben Liesfeld, Elke Holinski-Feder, Elke Holinski-Feder, Julia M. A. Pickl, Julia M. A. Pickl

    Pubblicazione 2022-12-01
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  3. 3
    Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories

    Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories di Maximilian G. W. Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M. Neuhann

    Pubblicazione 2023-12-01
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  4. 4
    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia di Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

    Pubblicazione 2018-10-01
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  5. 5
    Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

    Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia di Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

    Pubblicazione 2018-11-01
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