Search Results - Martin Poot
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Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders by Martin Poot
Published 2015Revisão -
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Prevalence and Phenotypic Impact of Robertsonian Translocations by Martin Poot, Ron Hochstenbach
Published 2021Revisão -
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Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions by Hannelie M. Engbers, Jasper J. van der Smagt, Ruben van ‘t Slot, Joris Vermeesch, Ron Hochstenbach, Martin Poot
Published 2008Artigo -
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Disruption of Redox Homeostasis in Tumor Necrosis Factor-Induced Apoptosis in a Murine Hepatocyte Cell Line by Robert H. Pierce, Jean S. Campbell, Alyssa B. Stephenson, Christopher C. Franklin, Michelle Chaisson, Martin Poot, Terrance J. Kavanagh, Peter S. Rabinovitch, Nelson Fausto
Published 2000Artigo -
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Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline† by 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
Published 2011Artigo -
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Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism by 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
Published 2011Artigo -
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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms by 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
Published 2012Artigo -
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A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder by 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
Published 2009Artigo -
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Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism by 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
Published 2009Artigo -
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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations by 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
Published 2010Artigo -
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<i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects by 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
Published 2016Revisão -
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The spectrum of<i>WRN</i>mutations in Werner syndrome patients by 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
Published 2006Artigo -
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Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders by 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
Published 2012Artigo
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