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Guy Froyen

Showing results (71-80 of 77) with videos related to

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European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
Nature Communications|September 10, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European originsShai Carmi, Ken Y Hui, Ethan Kochav, et al.
NPJ Precision Oncology|March 11, 2025
A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancerPieter-Jan Volders, Philippe Aftimos, Franceska Dedeurwaerdere, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationDorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Pageof 8

Showing results (71-80 of 77) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 77 results.
European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
Nature Communications|September 10, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European originsShai Carmi, Ken Y Hui, Ethan Kochav, et al.
NPJ Precision Oncology|March 11, 2025
A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancerPieter-Jan Volders, Philippe Aftimos, Franceska Dedeurwaerdere, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationDorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Pageof 8