Hasil Pencarian - Christian Staufner

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  1. 1
    Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

    Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS oleh Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F. Hoffmann, Siegmund Köhler, Christian Staufner

    Diterbitkan 2023-05-01
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  2. 2
    Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study

    Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study oleh Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derliz Mereles, Stefan Kölker, Christian Staufner

    Diterbitkan 2023-01-01
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  3. 3
    FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.

    FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis. oleh Sven F Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg F Hoffmann, Christian Staufner, Eugen Mengel, Markus Ries

    Diterbitkan 2020-01-01
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  4. 4
    Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A

    Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A oleh Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Stefan Kölker, Georg F. Hoffmann, Sabine Jung-Klawitter

    Diterbitkan 2019-03-01
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  5. 5
    Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1

    Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 oleh Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Stefan Kölker, Georg F. Hoffmann, Sabine Jung-Klawitter

    Diterbitkan 2019-05-01
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  6. 6
    P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration

    P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration oleh Ahmad Abou Tayoun, Swaroop Aradhya, Mitch Bailey, Laila Bastaki, Sara Dosenovic, Fatih Ezgü, Emmanuela Izzo, Christina Lampe, James J. O'Byrne, Guillermo Seratti, Catherine Snow, Christian Staufner, Pasquale Striano

    Diterbitkan 2023-01-01
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  7. 7
    aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

    aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment oleh Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl

    Diterbitkan 2023-01-01
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  8. 8
    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics oleh Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

    Diterbitkan 2022-04-01
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