Arama Sonuçları - Martin Zenker

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

    Clinical overview on <scp>RASopathies</scp> Yazar: Martin Zenker

    Baskı/Yayın Bilgisi 2022
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  2. 2
    Syndromic forms of congenital hyperinsulinism

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

    Baskı/Yayın Bilgisi 2023
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  3. 3
    Noonan syndrome and clinically related disorders

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

    Baskı/Yayın Bilgisi 2011
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  4. 4
    Pancreatic Development and Disease

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

    Baskı/Yayın Bilgisi 2007
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  5. 5
    Noonan syndrome: improving recognition and diagnosis

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

    Baskı/Yayın Bilgisi 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 Yazar: Caio Robledo D’Angioli Costa Quaio, Yoshiro Koda, Débora Romeo Bertola, Maja Sukalo, Martin Zenker, Chong Ae Kim

    Baskı/Yayın Bilgisi 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 Yazar: Alexander A.L. Jorge, Thomas Édouard, Mohamad Maghnie, Alberto Pietropoli, Nicky Kelepouris, Alicia Romanò, Martin Zenker, Reiko Horikawa

    Baskı/Yayın Bilgisi 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 Yazar: Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorský, Ion Cristian Cirstea, Christian P. Kratz, Martin Zenker, Alfred Wittinghofer, Mohammad Reza Ahmadian

    Baskı/Yayın Bilgisi 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 Yazar: Suzanne Schubbert, Gideon Bollag, Natalya Lyubynska, Hoa Nguyen, Christian P. Kratz, Martin Zenker, Charlotte M. Niemeyer, Anders Molven, Kevin Shannon

    Baskı/Yayın Bilgisi 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 Yazar: Fereshteh Haghighi, Julia Dahlmann, Saeideh Nakhaei‐Rad, Alexander Lang, Ingo Kutschka, Martin Zenker, George Kensah, Roland P. Piekorz, Mohammad Reza Ahmadian

    Baskı/Yayın Bilgisi 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 Yazar: Holger Lingel, Josef Wissing, Aditya Arra, Denny Schanze, Stefan Lienenklaus, Frank Klawonn, Mandy Pierau, Martin Zenker, Lothar Jänsch, Monika C. Brunner‐Weinzierl

    Baskı/Yayın Bilgisi 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 Yazar: Elizabeth I. Pierpont, Daniel Kenney‐Jung, Ryan Shanley, Abigail L Zatkalik, Ashley E. Whitmarsh, Samuel J. Kroening, Amy E. Roberts, Martin Zenker

    Baskı/Yayın Bilgisi 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 Yazar: Grégor Andelfinger, Christopher Marquis, Marie‐Josée Raboisson, Yves Théorêt, Stephan Waldmüller, G. Wiegand, Bruce D. Gelb, Martin Zenker, Marie‐Ange Delrue, Michael Hofbeck

    Baskı/Yayın Bilgisi 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 Yazar: Konrad Lehr, Darja Nikitina, Ramiro Vilchez‐Vargas, Rūta Steponaitienė, Cosima Thon, Jurgita Skiecevičienė, Denny Schanze, Martin Zenker, Peter Malfertheiner, Juozas Kupčinskas, Alexander Link

    Baskı/Yayın Bilgisi 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 Yazar: Marialetizia Motta, Miray Fidan, Emanuele Bellacchio, Francesca Pantaleoni, Konstantin Schneider‐Heieck, Simona Coppola, Guntram Borck, Leonardo Salviati, Martin Zenker, Ion Cristian Cirstea, Marco Tartaglia

    Baskı/Yayın Bilgisi 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 Yazar: 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

    Baskı/Yayın Bilgisi 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 Yazar: 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

    Baskı/Yayın Bilgisi 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 Yazar: 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

    Baskı/Yayın Bilgisi 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 Yazar: 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

    Baskı/Yayın Bilgisi 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 Yazar: 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

    Baskı/Yayın Bilgisi 2013
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