Søgeresultater - Martin Poot

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  1. 1
    Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders

    Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders af Martin Poot

    Udgivet 2015
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  2. 2
    Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements

    Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements af Martin Poot, Thomas Haaf

    Udgivet 2015
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  3. 3
    Prevalence and Phenotypic Impact of Robertsonian Translocations

    Prevalence and Phenotypic Impact of Robertsonian Translocations af Martin Poot, Ron Hochstenbach

    Udgivet 2021
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  4. 4
    Detection of changes in mitochondrial function during apoptosis by simultaneous staining with multiple fluorescent dyes and correlated multiparameter flow cytometry

    Detection of changes in mitochondrial function during apoptosis by simultaneous staining with multiple fluorescent dyes and correlated multiparameter flow cytometry af Martin Poot, Robert H. Pierce

    Udgivet 1999
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  5. 5
    Efficacy of MitoTracker Green™ and CMXrosamine to measure changes in mitochondrial membrane potentials in living cells and tissues

    Efficacy of MitoTracker Green™ and CMXrosamine to measure changes in mitochondrial membrane potentials in living cells and tissues af W. Pendergrass, Norman S. Wolf, Martin Poot

    Udgivet 2004
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  6. 6
    Diabetes Accelerates Smooth Muscle Accumulation in Lesions of Atherosclerosis

    Diabetes Accelerates Smooth Muscle Accumulation in Lesions of Atherosclerosis af Lucy A. Suzuki, Martin Poot, Ross G. Gerrity, Karin Bornfeldt

    Udgivet 2001
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  7. 7
    Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

    Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions af Hannelie M. Engbers, Jasper J. van der Smagt, Ruben van ‘t Slot, Joris Vermeesch, Ron Hochstenbach, Martin Poot

    Udgivet 2008
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  8. 8
    Functional role of the Werner syndrome RecQ helicase in human fibroblasts

    Functional role of the Werner syndrome RecQ helicase in human fibroblasts af Kiranjit K. Dhillon, Julia M. Sidorova, Yannick Saintigny, Martin Poot, Katherine A. Gollahon, Peter S. Rabinovitch, Raymond J. Monnat

    Udgivet 2006
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  9. 9
    Protein tyrosine phosphatase RQ is a phosphatidylinositol phosphatase that can regulate cell survival and proliferation

    Protein tyrosine phosphatase RQ is a phosphatidylinositol phosphatase that can regulate cell survival and proliferation af Anush Oganesian, Martin Poot, Günter Daum, Scott A. Coats, Matthew B. Wright, Ronald A. Seifert, Daniel F. Bowen‐Pope

    Udgivet 2003
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  10. 10
    Disruption of Redox Homeostasis in Tumor Necrosis Factor-Induced Apoptosis in a Murine Hepatocyte Cell Line

    Disruption of Redox Homeostasis in Tumor Necrosis Factor-Induced Apoptosis in a Murine Hepatocyte Cell Line af Robert H. Pierce, Jean S. Campbell, Alyssa B. Stephenson, Christopher C. Franklin, Michelle Chaisson, Martin Poot, Terrance J. Kavanagh, Peter S. Rabinovitch, Nelson Fausto

    Udgivet 2000
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  11. 11
    Analysis of mitochondrial morphology and function with novel fixable fluorescent stains.

    Analysis of mitochondrial morphology and function with novel fixable fluorescent stains. af Martin Poot, Y Z Zhang, Johannes Kramer, K. S. Wells, Laurie J. Jones, David K. Hanzel, A G Lugade, Victoria L. Singer, R P Haugland

    Udgivet 1996
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  12. 12
    Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

    Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline† af Wigard P. Kloosterman, Victor Guryev, Mark van Roosmalen, Karen Duran, Ewart de Bruijn, Saskia C.M. Bakker, Tom G.W. Letteboer, Bernadette van Nesselrooij, Ron Hochstenbach, Martin Poot, Edwin Cuppen

    Udgivet 2011
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  13. 13
    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism af Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot, Maretha Jonge, Wouter Staal, Frits A. Beemer, Jacob Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot

    Udgivet 2011
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  14. 14
    Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

    Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms af Wigard P. Kloosterman, Masoumeh Tavakoli‐Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen

    Udgivet 2012
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  15. 15
    A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

    A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder af Bert van der Zwaag, Wouter Staal, Ron Hochstenbach, Martin Poot, Henk A. Spierenburg, Maretha Jonge, Nienke E. Verbeek, Ruben van ‘t Slot, Michael A. van Es, Frank J. T. Staal, Christine M. Freitag, Jacobine E. Buizer‐Voskamp, Marcel Nelen, Leonard H. van den Berg, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach

    Udgivet 2009
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  16. 16
    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism af Bert van der Zwaag, Lude Franke, Martin Poot, Ron Hochstenbach, Henk A. Spierenburg, Jacob Vorstman, Emma van Daalen, Maretha Jonge, Nienke E. Verbeek, Eva H. Brilstra, Ruben van ‘t Slot, Roel A. Ophoff, Michael A. van Es, Hylke M. Blauw, Jan H. Veldink, Jacobine E. Buizer‐Voskamp, Frits A. Beemer, Leonard H. van den Berg, Cisca Wijmenga, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach, Wouter Staal

    Udgivet 2009
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  17. 17
    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations af Katrin Friedrich, Lin Lee, Dru F. Leistritz, Gudrun Nürnberg, Bidisha Saha, Fuki M. Hisama, Daniel Eyman, Davor Lessel, Peter Nürnberg, Chumei Li, María José García-F-Villalta, Carolien M. Kets, Joerg Schmidtke, Vítor Tedim Cruz, Peter C. van den Akker, Joseph Boak, Dincy Peter, Goli Compoginis, Kıvanç Çefle, Şükrü Öztürk, Norberto López, Theda Wessel, Martin Poot, P.F. Ippel, Birgit Groff-Kellermann, Holger Hoehn, George M. Martin, Christian Kubisch, Junko Oshima

    Udgivet 2010
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  18. 18
    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects af Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kıvanç Çefle, Şükrü Palanduz, Şükrü Öztürk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly N. Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth A. Streeten, Raúl E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler, Junko Oshima

    Udgivet 2016
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  19. 19
    The spectrum of<i>WRN</i>mutations in Werner syndrome patients

    The spectrum of<i>WRN</i>mutations in Werner syndrome patients af Shurong Huang, Lin Lee, Nancy Hanson, C Lenaerts, Holger Hoehn, Martin Poot, Craig D. Rubin, Da-Fu Chen, Chih‐Chao Yang, Heike Juch, Thomas Dorn, Roland Spiegel, Elif A Oral, Mohammed Abid, Carla Battisti, Emanuela Lucci‐Cordisco, Giovanni Neri, Erin H. Steed, Alexa Kidd, William L. Isley, David Showalter, Janet L. Vittone, A. Konstantinow, Johannes Ring, Peter Meyer, Sharon L. Wenger, A. von Herbay, Uwe Wollina, Markus Schuelke, Carin R. Huizenga, Dru F. Leistritz, George M. Martin, Shahzad I. Mian, Junko Oshima

    Udgivet 2006
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  20. 20
    Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders af Claire S. Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Råstam, Henrik Anckarsäter, Gudrun Nygren, I. Carina Gillberg, Jonas Melke, Roberto Toro, Béatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P. Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David Collier, Patrick Bolton, Andreas G. Chiocchetti, Sabine M. Klauck, Fritz Poustka, Christine M. Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana Filipa Sequeira, Bárbara Oliveira, Astrid M. Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W. Scherer, Diana Zélénika, Marc Delépine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie–Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M. Boeckers, Thomas Bourgeron

    Udgivet 2012
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