Søgeresultater - Elisabeth Graf

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  1. 1
    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb af Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B. Haack, Elisabeth Graf, Tim M. Strom, Thomas Meitinger, Wasim Ahmad

    Udgivet 2017
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  2. 2
    Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles

    Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles af Yiming Cheng, Jiang Li, Susanne Keipert, Shuyue Zhang, Andreas Hauser, Elisabeth Graf, Tim M. Strom, Matthias H. Tschöp, Martin Jastroch, Fabiana Perocchi

    Udgivet 2018
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  3. 3
    Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

    Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage af Sandra Jansen, Bernhard Aigner, Hubert Pausch, Michał Wysocki, Sebastian Eck, Anna Benet‐Pagès, Elisabeth Graf, Thomas Wieland, Tim M. Strom, Thomas Meitinger, Ruedi Fries

    Udgivet 2013
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  4. 4
    Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

    Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction af Ingrid Brænne, Mariana Kleinecke, Benedikt Reiz, Elisabeth Graf, Tim M. Strom, Thomas Wieland, Marcus Fischer, Thorsten Kessler, Christian Hengstenberg, Thomas Meitinger, Jeanette Erdmann, Heribert Schunkert

    Udgivet 2015
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  5. 5
    Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

    Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease af Matias Wagner, Riccardo Berutti, Bettina Lorenz‐Depiereux, Elisabeth Graf, Gertrud Eckstein, Johannes A. Mayr, Thomas Meitinger, Uwe Ahting, Holger Prokisch, Tim M. Strom, Saskia B. Wortmann

    Udgivet 2019
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  6. 6
    Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

    Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice af Susanne Keipert, Dominik Lutter, Bjoern O. Schroeder, Daniel Brandt, Marcus Ståhlman, Thomas Schwarzmayr, Elisabeth Graf, Helmut Fuchs, Martin Hrabě de Angelis, Matthias H. Tschöp, Jan Rozman, Martin Jastroch

    Udgivet 2020
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  7. 7
    Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

    Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer af Kathrin Giehl, Gertrud Eckstein, Sandra M. Pasternack, Silke Praetzel‐Wunder, Thomas Ruzicka, Peter Lichtner, K. Seidl, Mike A. Rogers, Elisabeth Graf, Lutz Langbein, Markus Braun‐Falco, Regina C. Betz, Tim M. Strom

    Udgivet 2012
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  8. 8
    DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

    DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria af Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Stefan Kölker

    Udgivet 2012
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  9. 9
    Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

    Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature af Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild, Sebastian Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif B. Ekici, Felix F. Brockschmidt, Markus M. Nöthen, Arnold Münnich, Tim M. Strom, André Reis, Laurence Colleaux

    Udgivet 2011
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  10. 10
    Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

    Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V af Christian Beetz, Thomas R. Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanoski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary M. Reilly, Tim M. Strom, Michaela Auer‐Grumbach

    Udgivet 2012
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  11. 11
    Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome

    Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome af Tobias B. Haack, Christine Makowski, Yoshiaki Yao, Elisabeth Graf, Maja Hempel, Thomas Wieland, Ulrike Tauer, Uwe Ahting, Johannes A. Mayr, Peter Freisinger, Hiroki‎ Yoshimatsu, Ken‐ichi Inui, Tim M. Strom, Thomas Meitinger, Atsushi Yonezawa, Holger Prokisch

    Udgivet 2012
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  12. 12
    Long-Term Cold Adaptation Does Not Require FGF21 or UCP1

    Long-Term Cold Adaptation Does Not Require FGF21 or UCP1 af Susanne Keipert, Maria Kutschke, Mario Ost, Thomas Schwarzmayr, Evert M. van Schothorst, Daniel Lamp, Laura Brachthäuser, Isabel Hamp, Sithandiwe E. Mazibuko, Sonja Hartwig, Stefan Lehr, Elisabeth Graf, Oliver Plettenburg, Frauke Neff, Matthias H. Tschöp, Martin Jastroch

    Udgivet 2017
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  13. 13
    Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

    Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy af Juliane Winkelmann, Ling Lin, Barbara Schormair, Birgitte Rahbek Kornum, Juliette Faraco, Giuseppe Plazzi, Atle Melberg, F. Cornelio, Alexander E. Urban, Fabio Pizza, Francesca Poli, Fabian Grubert, Thomas Wieland, Elisabeth Graf, Joachim Hallmayer, Tim M. Strom, Emmanuel Mignot

    Udgivet 2012
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  14. 14
    An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics

    An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics af Ilias Angelidis, Lukas M. Simon, Isis E. Fernandez, Maximilian Strunz, Christoph H. Mayr, Flavia R. Greiffo, George Tsitsiridis, Meshal Ansari, Elisabeth Graf, Tim-Matthias Strom, Monica Nagendran, Tushar Desai, Oliver Eickelberg, Matthias Mann, Fabian J. Theis, Herbert B. Schiller

    Udgivet 2019
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  15. 15
    Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

    Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island af Alice Hadchouel, Thomas Wieland, Matthias Griese, Enrico Baruffini, Bettina Lorenz‐Depiereux, Laurent Enaud, Elisabeth Graf, J.‐C. Dubus, S. Halioui-Louhaichi, Aurore Coulomb, Christophe Delacourt, Gertrud Eckstein, Ralf Zarbock, Thomas Schwarzmayr, François Cartault, Thomas Meitinger, Tiziana Lodi, J. de Blic, Tim M. Strom

    Udgivet 2015
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  16. 16
    Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans

    Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans af Stephan Sachs, Simona Zarini, Darcy E. Kahn, Kathleen A. Harrison, Leigh Perreault, Tzu Phang, Sean A. Newsom, Allison Strauss, Anna A. Kerege, Jonathan A. Schoen, Daniel H. Bessesen, Thomas Schwarzmayr, Elisabeth Graf, Dominik Lutter, Jan Krumsiek, Susanna M. Hofmann, Bryan C. Bergman

    Udgivet 2019
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  17. 17
    Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

    Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome af Johannes A. Mayr, Tobias B. Haack, Elisabeth Graf, Franz Zimmermann, Thomas Wieland, Birgit Haberberger, Andrea Superti‐Furga, Janbernd Kirschner, Beat Steinmann, Matthias R. Baumgartner, Isabella Moroni, Eleonora Lamantea, Massimo Zeviani, Richard J. Rodenburg, Jan Smeitink, Tim M. Strom, Thomas Meitinger, Wolfgang Sperl, Holger Prokisch

    Udgivet 2012
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  18. 18
    Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

    Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy af Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Réka Kovács-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann, Tim M. Strom, René Santer, Thomas Meitinger, Thomas Klopstock, Holger Prokisch, Tobias B. Haack

    Udgivet 2016
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  19. 19
    Driver mutations in USP8 wild-type Cushing’s disease

    Driver mutations in USP8 wild-type Cushing’s disease af Silviu Sbiera, Luis Gustavo Perez‐Rivas, Lyudmyla Taranets, Isabel Weigand, Jörg Flitsch, Elisabeth Graf, Camelia‐Maria Monoranu, Wolfgang Saeger, Christian Hagel, Jürgen Honegger, Guillaume Assié, Ad R. Hermus, Günter K. Stalla, Sabine Herterich, Cristina L. Ronchi, Timo Deutschbein, Martín Reincke, Tim M. Strom, Nikita Popov, Marily Theodoropoulou, Martin Faßnacht

    Udgivet 2019
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  20. 20
    Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

    Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition af Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck‐Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B. Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M. Strom, Hermann‐Josef Lüdecke, Dagmar Wieczorek

    Udgivet 2016
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