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Ron Hochstenbach

Showing results (31-40 of 51) with videos related to

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American Journal of Medical Genetics. Part A|April 14, 2007
Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)Martin Poot, Hester Y Kroes, Suzanne E V D Wijst, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndromeKlara Flipsen-ten Berg, Peter M van Hasselt, Marc J Eleveld, et al.
American Journal of Human Genetics|March 24, 2015
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspringMirjam S de Pagter, Markus J van Roosmalen, Annette F Baas, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Discovery of variants unmasked by hemizygous deletionsRon Hochstenbach, Martin Poot, Isaac J Nijman, et al.
Genome Medicine|December 6, 2019
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variantsSjors Middelkamp, Judith M Vlaar, Jacques Giltay, et al.
BMJ (Clinical Research Ed.)|June 30, 2005
Selective chromosome analysis in couples with two or more miscarriages: case-control studyMaureen T M Franssen, Johanna C Korevaar, Nico J Leschot, et al.
European Journal of Medical Genetics|April 13, 2010
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU geneAlmuth Caliebe, Hester Y Kroes, Jasper J van der Smagt, et al.
Genome Medicine|January 28, 2017
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cellsSjors Middelkamp, Sebastiaan van Heesch, A Koen Braat, et al.
Neurogenetics|August 13, 2011
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autismEmma van Daalen, Chantal Kemner, Nienke E Verbeek, et al.
Cell Reports|July 21, 2012
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsWigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, et al.
Pageof 6

Showing results (31-40 of 51) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|April 14, 2007
Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)Martin Poot, Hester Y Kroes, Suzanne E V D Wijst, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndromeKlara Flipsen-ten Berg, Peter M van Hasselt, Marc J Eleveld, et al.
American Journal of Human Genetics|March 24, 2015
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspringMirjam S de Pagter, Markus J van Roosmalen, Annette F Baas, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Discovery of variants unmasked by hemizygous deletionsRon Hochstenbach, Martin Poot, Isaac J Nijman, et al.
Genome Medicine|December 6, 2019
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variantsSjors Middelkamp, Judith M Vlaar, Jacques Giltay, et al.
BMJ (Clinical Research Ed.)|June 30, 2005
Selective chromosome analysis in couples with two or more miscarriages: case-control studyMaureen T M Franssen, Johanna C Korevaar, Nico J Leschot, et al.
European Journal of Medical Genetics|April 13, 2010
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU geneAlmuth Caliebe, Hester Y Kroes, Jasper J van der Smagt, et al.
Genome Medicine|January 28, 2017
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cellsSjors Middelkamp, Sebastiaan van Heesch, A Koen Braat, et al.
Neurogenetics|August 13, 2011
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autismEmma van Daalen, Chantal Kemner, Nienke E Verbeek, et al.
Cell Reports|July 21, 2012
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsWigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, et al.
Pageof 6