Search Results - Ron Hochstenbach

  • Showing 1 - 15 results of 15
Refine Results
  1. 1
    Prevalence and Phenotypic Impact of Robertsonian Translocations

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

    Published 2021
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Is the Y chromosome of <i>Drosophila</i> an evolved supernumerary chromosome?

    Is the Y chromosome of <i>Drosophila</i> an evolved supernumerary chromosome? by Johannes H. P. Hackstein, Ron Hochstenbach, Elisabeth Hauschteck‐Jungen, Leo W. Beukeboom

    Published 1996
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    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 by Hannelie M. Engbers, Jasper J. van der Smagt, Ruben van ‘t Slot, Joris Vermeesch, Ron Hochstenbach, Martin Poot

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

    A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome by Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek, Corinna Zogel, Ron Hochstenbach, Almuth Caliebe, Alma Kuechler, Bernhard Horsthemke, Karin Buiting

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    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† 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 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

    Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring by Mirjam S. de Pagter, Markus J. van Roosmalen, Annette F. Baas, Ivo Renkens, Karen Duran, Ellen van Binsbergen, Masoumeh Tavakoli‐Yaraki, Ron Hochstenbach, Lars T. van der Veken, Edwin Cuppen, Wigard P. Kloosterman

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Recombinant Vitronectin Is a Functionally Defined Substrate That Supports Human Embryonic Stem Cell Self-Renewal via αVβ5 Integrin

    Recombinant Vitronectin Is a Functionally Defined Substrate That Supports Human Embryonic Stem Cell Self-Renewal via αVβ5 Integrin by Stefan Braam, Laura Zeinstra, Sandy H.M. Litjens, Dorien Ward‐van Oostwaard, Stieneke van den Brink, Linda van Laake, Franck Lebrin, Peter Kats, Ron Hochstenbach, Robert Passier, Arnoud Sonnenberg, Christine L. Mummery

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Selective chromosome analysis in couples with two or more miscarriages: case-control study

    Selective chromosome analysis in couples with two or more miscarriages: case-control study by Maureen Franssen, Johanna C. Korevaar, N. J. Leschot, Patrick M. Bossuyt, Alida C. Knegt, Klasien B.J. Gerssen‐Schoorl, Carine Wouters, Kerstin Hansson, Ron Hochstenbach, K. Madan, Fulco van der Veen, Mariëtte Goddijn

    Published 2005
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    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 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 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    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 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 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    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 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 2009
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

    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 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

    Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease by Saskia N. van der Crabben, Marije P. Hennus, Grant A. McGregor, Deborah Ritter, Sandesh C.S. Nagamani, Owen S. Wells, Magdaléna Harakaľová, Iván K. Chinn, Aaron Alt, Lucie Vondrová, Ron Hochstenbach, Joris M. van Montfrans, Suzanne Terheggen‐Lagro, Stef van Lieshout, Markus J. van Roosmalen, Ivo Renkens, Karen Duran, Isaäc J. Nijman, Wigard P. Kloosterman, Eric A. M. Hennekam, Jordan S. Orange, Peter M. van Hasselt, David A. Wheeler, Jan Paleček, Alan R. Lehmann, Antony W. Oliver, Laurence H. Pearl, Sharon E. Plon, Johanne M. Murray, Gijs van Haaften

    Published 2016
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes by Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies by Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    Published 2016
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: