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Martin Poot

Showing results (81-90 of 100) with videos related to

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American Journal of Medical Genetics. Part A|April 9, 2009
A duplication including GATA4 does not co-segregate with congenital heart defectsIrene C Joziasse, Jasper J van der Smagt, Martin Poot, et al.
Molecular Syndromology|March 22, 2016
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II ErrorsRon Hochstenbach, Beata Nowakowska, Marianne Volleth, et al.
Human Molecular Genetics|February 26, 2011
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germlineWigard P Kloosterman, Victor Guryev, Mark van Roosmalen, et al.
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.
European Journal of Human Genetics : EJHG|January 20, 2012
Discovery of variants unmasked by hemizygous deletionsRon Hochstenbach, Martin Poot, Isaac J Nijman, et al.
Proceedings. Biological Sciences|November 1, 2023
Evaluating the effects of moonlight on the vertical flight profiles of three western palaearctic swiftsKoen Hufkens, Christoph M Meier, Ruben Evens, 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.
European Journal of Human Genetics : EJHG|September 13, 2012
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusMagdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, 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.
Pageof 10

Showing results (81-90 of 100) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics. Part A|April 9, 2009
A duplication including GATA4 does not co-segregate with congenital heart defectsIrene C Joziasse, Jasper J van der Smagt, Martin Poot, et al.
Molecular Syndromology|March 22, 2016
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II ErrorsRon Hochstenbach, Beata Nowakowska, Marianne Volleth, et al.
Human Molecular Genetics|February 26, 2011
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germlineWigard P Kloosterman, Victor Guryev, Mark van Roosmalen, et al.
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.
European Journal of Human Genetics : EJHG|January 20, 2012
Discovery of variants unmasked by hemizygous deletionsRon Hochstenbach, Martin Poot, Isaac J Nijman, et al.
Proceedings. Biological Sciences|November 1, 2023
Evaluating the effects of moonlight on the vertical flight profiles of three western palaearctic swiftsKoen Hufkens, Christoph M Meier, Ruben Evens, 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.
European Journal of Human Genetics : EJHG|September 13, 2012
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusMagdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, 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.
Pageof 10