检索结果 - Martin Zenker

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  1. 1
    Clinical overview on <scp>RASopathies</scp>

    Clinical overview on <scp>RASopathies</scp> 由 Martin Zenker

    出版 2022
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  2. 2
    Syndromic forms of congenital hyperinsulinism

    Syndromic forms of congenital hyperinsulinism 由 Martin Zenker, Klaus Mohnike, Katja Palm

    出版 2023
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  3. 3
    Noonan syndrome and clinically related disorders

    Noonan syndrome and clinically related disorders 由 Marco Tartaglia, Bruce D. Gelb, Martin Zenker

    出版 2011
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  4. 4
    Pancreatic Development and Disease

    Pancreatic Development and Disease 由 David A. Cano, Matthias Hebrok, Martin Zenker

    出版 2007
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  5. 5
    Noonan syndrome: improving recognition and diagnosis

    Noonan syndrome: improving recognition and diagnosis 由 Martin Zenker, Thomas Édouard, Joanne Blair, Marco Cappa

    出版 2022
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  6. 6
    Case Report Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

    Case Report Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation 由 Caio Robledo D’Angioli Costa Quaio, Yoshiro Koda, Débora Romeo Bertola, Maja Sukalo, Martin Zenker, Chong Ae Kim

    出版 2014
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  7. 7
    Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

    Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status 由 Alexander A.L. Jorge, Thomas Édouard, Mohamad Maghnie, Alberto Pietropoli, Nicky Kelepouris, Alicia Romanò, Martin Zenker, Reiko Horikawa

    出版 2022
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  8. 8
    Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

    Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders 由 Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorský, Ion Cristian Cirstea, Christian P. Kratz, Martin Zenker, Alfred Wittinghofer, Mohammad Reza Ahmadian

    出版 2010
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  9. 9
    Biochemical and Functional Characterization of Germ Line <i>KRAS</i> Mutations

    Biochemical and Functional Characterization of Germ Line <i>KRAS</i> Mutations 由 Suzanne Schubbert, Gideon Bollag, Natalya Lyubynska, Hoa Nguyen, Christian P. Kratz, Martin Zenker, Charlotte M. Niemeyer, Anders Molven, Kevin Shannon

    出版 2007
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  10. 10
    bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling

    bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling 由 Fereshteh Haghighi, Julia Dahlmann, Saeideh Nakhaei‐Rad, Alexander Lang, Ingo Kutschka, Martin Zenker, George Kensah, Roland P. Piekorz, Mohammad Reza Ahmadian

    出版 2018
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  11. 11
    CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation

    CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation 由 Holger Lingel, Josef Wissing, Aditya Arra, Denny Schanze, Stefan Lienenklaus, Frank Klawonn, Mandy Pierau, Martin Zenker, Lothar Jänsch, Monika C. Brunner‐Weinzierl

    出版 2017
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  12. 12
    Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study

    Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study 由 Elizabeth I. Pierpont, Daniel Kenney‐Jung, Ryan Shanley, Abigail L Zatkalik, Ashley E. Whitmarsh, Samuel J. Kroening, Amy E. Roberts, Martin Zenker

    出版 2022
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  13. 13
    Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

    Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition 由 Grégor Andelfinger, Christopher Marquis, Marie‐Josée Raboisson, Yves Théorêt, Stephan Waldmüller, G. Wiegand, Bruce D. Gelb, Martin Zenker, Marie‐Ange Delrue, Michael Hofbeck

    出版 2019
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  14. 14
    Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancer

    Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancer 由 Konrad Lehr, Darja Nikitina, Ramiro Vilchez‐Vargas, Rūta Steponaitienė, Cosima Thon, Jurgita Skiecevičienė, Denny Schanze, Martin Zenker, Peter Malfertheiner, Juozas Kupčinskas, Alexander Link

    出版 2023
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  15. 15
    Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

    Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling 由 Marialetizia Motta, Miray Fidan, Emanuele Bellacchio, Francesca Pantaleoni, Konstantin Schneider‐Heieck, Simona Coppola, Guntram Borck, Leonardo Salviati, Martin Zenker, Ion Cristian Cirstea, Marco Tartaglia

    出版 2018
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  16. 16
    Synaptic activity controls localization and function of Ct <scp>BP</scp> 1 via binding to <scp>B</scp> assoon and <scp>P</scp> iccolo

    Synaptic activity controls localization and function of Ct <scp>BP</scp> 1 via binding to <scp>B</scp> assoon and <scp>P</scp> iccolo 由 Daniela Ivanova, Anika Dirks, Carolina Montenegro‐Venegas, Cornelia Schöne, Wilko D. Altrock, Claudia Marini, Renato Frischknecht, Denny Schanze, Martin Zenker, Eckart D. Gundelfinger, Anna Fejtová

    出版 2015
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  17. 17
    Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

    Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome 由 Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han G. Brunner, Antonio Pérez Aytés, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

    出版 2011
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  18. 18
    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation 由 Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian T. Thiel, Franz Rüschendorf, Peter Nürnberg, André Reis, Udo Trautmann

    出版 2006
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  19. 19
    Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

    Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation 由 I. van der Bürgt, William J. Kupsky, Stephani Stassou, Ali M. Nadroo, Cândida Barroso, Anja Diem, Christian P. Kratz, Radovan Dvorský, Mohammad Reza Ahmadian, Martin Zenker

    出版 2007
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  20. 20
    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene 由 Inga Freunscht, Bernt Popp, Rainer Blank, Sabine Endele, Ute Moog, Holger Petri, Eva‐Christina Prott, André Reis, Jochen Rübo, Bernhard Zabel, Martin Zenker, Johannes Hebebrand, Dagmar Wieczorek

    出版 2013
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