Hasil Pencarian - Ute Hehr

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  1. 1
    Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

    Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance oleh Sare Gökdere, Holm Schneider, Ute Hehr, Laure Willen, Pascal Schneider, Sigrun Maier-Wohlfart

    Diterbitkan 2022-07-01
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  2. 2
    Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10

    Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10 oleh Bernadett Kurz, MD, Kevin-Thomas Koschitzki, MD, Ute Hehr, MD, Ute Germer, MD, Julia Schreml, MD, Florian Langhammer, MD, Stephan Schreml, MD

    Diterbitkan 2023-05-01
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  3. 3
    CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review

    CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review oleh Sebastian J Müller, Eya Khadhraoui, Ibrahim Allam, Loukas Argyriou, Ute Hehr, Jan Liman, Gerd Hasenfuß, Mathias Bähr, Christian H Riedel, Jan C Koch

    Diterbitkan 2020-03-01
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  4. 4
    Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D

    Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D oleh Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke

    Diterbitkan 2024-07-01
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  5. 5
    The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

    The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy oleh Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp

    Diterbitkan 2019-02-01
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  6. 6
    Generation of highly purified human cardiomyocytes from peripheral blood mononuclear cell-derived induced pluripotent stem cells.

    Generation of highly purified human cardiomyocytes from peripheral blood mononuclear cell-derived induced pluripotent stem cells. oleh Maya Fuerstenau-Sharp, Martina E Zimmermann, Klaus Stark, Nico Jentsch, Melanie Klingenstein, Marzena Drzymalski, Stefan Wagner, Lars S Maier, Ute Hehr, Andrea Baessler, Marcus Fischer, Christian Hengstenberg

    Diterbitkan 2015-01-01
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  7. 7
    An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

    An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons oleh Florian Krach, Judith Stemick, Tom Boerstler, Alexander Weiss, Ioannis Lingos, Stephanie Reischl, Holger Meixner, Sonja Ploetz, Michaela Farrell, Ute Hehr, Zacharias Kohl, Beate Winner, Juergen Winkler

    Diterbitkan 2022-11-01
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  8. 8
    Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease

    Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease oleh Jan Philipp Dobert, Simon Bub, Rebecca Mächtel, Dovile Januliene, Lisa Steger, Martin Regensburger, Sibylle Wilfling, Jia‐Xuan Chen, Mario Dejung, Sonja Plötz, Ute Hehr, Arne Moeller, Philipp Arnold, Friederike Zunke

    Diterbitkan 2024-07-01
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  9. 9
    Further evidence for POMK as candidate gene for WWS with meningoencephalocele

    Further evidence for POMK as candidate gene for WWS with meningoencephalocele oleh Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler

    Diterbitkan 2020-09-01
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  10. 10
    Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

    Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders oleh Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel

    Diterbitkan 2019-07-01
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  11. 11
    Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression

    Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression oleh Matthias Lubnow, Barbara Schmidt, Martin Fleck, Bernd Salzberger, Thomas Müller, Georg Peschel, Roland Schneckenpointner, Tobias Lange, Florian Hitzenbichler, Martin Kieninger, Dirk Lunz, Bernhard Graf, Christoph Brochhausen, Florian Weber, Florian Lüke, David Peterhoff, Philipp Schuster, Andreas Hiergeist, Robert Offner, Ute Hehr, Stefan Wallner, Frank Hanses, Stephan Schmid, Kilian Weigand, Florian Geismann, Hendrik Poeck, Tobias Pukrop, Matthias Evert, Andre Gessner, Ralph Burkhardt, Wolfgang Herr, Lars S. Maier, Daniel Heudobler

    Diterbitkan 2021-02-01
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