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European Journal of Human Genetics : EJHG
|
July 23, 2009
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex
Martin Poot, Marc J Eleveld, Ruben van 't Slot, et al.
European Journal of Medical Genetics
|
April 23, 2013
Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases
Martin Poot, Annemarie A Verrijn Stuart, Emma van Daalen, et al.
Human Mutation
|
October 2, 2010
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions
Femke Hannes, Jeroen Van Houdt, Oliver W Quarrell, et al.
European Journal of Human Genetics : EJHG
|
December 11, 2008
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
Deniz Kanber, Jacques Giltay, Dagmar Wieczorek, et al.
European Journal of Human Genetics : EJHG
|
October 3, 2008
Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
Hannelie Engbers, Jasper J van der Smagt, Ruben van 't Slot, et al.
Nature Methods
|
April 9, 2008
Improved genetic manipulation of human embryonic stem cells
Stefan R Braam, Chris Denning, Stieneke van den Brink, et al.
Cytogenetic and Genome Research
|
December 16, 2014
Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells: case report and review of the literature
Ron Hochstenbach, Pieter-Jaap Krijtenburg, Lars T van der Veken, et al.
European Journal of Medical Genetics
|
October 13, 2007
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter
Martin Poot, Marc J Eleveld, Ruben van 't Slot, et al.
European Journal of Medical Genetics
|
April 14, 2009
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
Ron Hochstenbach, Ellen van Binsbergen, John Engelen, et al.
Clinical Dysmorphology
|
April 30, 2011
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls
Hester Y Kroes, Ron Hochstenbach, Rutger A J Nievelstein, et al.
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of 6
Search research articles
Search
Showing results (11-20 of 51) with videos related to
Sort By:
Page
of 6
European Journal of Human Genetics : EJHG
|
July 23, 2009
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex
Martin Poot, Marc J Eleveld, Ruben van 't Slot, et al.
European Journal of Medical Genetics
|
April 23, 2013
Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases
Martin Poot, Annemarie A Verrijn Stuart, Emma van Daalen, et al.
Human Mutation
|
October 2, 2010
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions
Femke Hannes, Jeroen Van Houdt, Oliver W Quarrell, et al.
European Journal of Human Genetics : EJHG
|
December 11, 2008
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
Deniz Kanber, Jacques Giltay, Dagmar Wieczorek, et al.
European Journal of Human Genetics : EJHG
|
October 3, 2008
Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
Hannelie Engbers, Jasper J van der Smagt, Ruben van 't Slot, et al.
Nature Methods
|
April 9, 2008
Improved genetic manipulation of human embryonic stem cells
Stefan R Braam, Chris Denning, Stieneke van den Brink, et al.
Cytogenetic and Genome Research
|
December 16, 2014
Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells: case report and review of the literature
Ron Hochstenbach, Pieter-Jaap Krijtenburg, Lars T van der Veken, et al.
European Journal of Medical Genetics
|
October 13, 2007
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter
Martin Poot, Marc J Eleveld, Ruben van 't Slot, et al.
European Journal of Medical Genetics
|
April 14, 2009
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
Ron Hochstenbach, Ellen van Binsbergen, John Engelen, et al.
Clinical Dysmorphology
|
April 30, 2011
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls
Hester Y Kroes, Ron Hochstenbach, Rutger A J Nievelstein, et al.
Page
of 6