Ngā hua rapu kaituhi :: APM

1

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

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

Tiaki ki tētahi rārangi

I tiakina i:
2

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

I whakaputaina 1996

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
3

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

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
4

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

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
5

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline† mā 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

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
6

Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring mā 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

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
7

Recombinant Vitronectin Is a Functionally Defined Substrate That Supports Human Embryonic Stem Cell Self-Renewal via αVβ5 Integrin mā 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

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
8

Selective chromosome analysis in couples with two or more miscarriages: case-control study mā 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

I whakaputaina 2005

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
9

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism mā 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

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
10

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms mā 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

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
11

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

I whakaputaina 2009

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
12

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

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
13

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease mā 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

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
14

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

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
15

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies mā 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

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i: