Αποτελέσματα αναζήτησης - Ron Hochstenbach

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  1. 1
    Prevalence and Phenotypic Impact of Robertsonian Translocations

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

    Έκδοση 2021
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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? από Johannes H. P. Hackstein, Ron Hochstenbach, Elisabeth Hauschteck‐Jungen, Leo W. Beukeboom

    Έκδοση 1996
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από Hannelie M. Engbers, Jasper J. van der Smagt, Ruben van ‘t Slot, Joris Vermeesch, Ron Hochstenbach, Martin Poot

    Έκδοση 2008
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek, Corinna Zogel, Ron Hochstenbach, Almuth Caliebe, Alma Kuechler, Bernhard Horsthemke, Karin Buiting

    Έκδοση 2008
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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† από 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

    Έκδοση 2011
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2015
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2008
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2005
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2011
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2012
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2009
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  12. 12
    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism από 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

    Έκδοση 2009
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2016
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  14. 14
    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes από 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

    Έκδοση 2008
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2016
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

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