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Guy Froyen

Showing results (41-50 of 77) with videos related to

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The HUGO Journal|June 11, 2010
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencingHao Hu, Klaus Wrogemann, Vera Kalscheuer, et al.
Human Genetics|March 3, 2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy Froyen, Marijke Bauters, Jackie Boyle, et al.
The HUGO Journal|August 13, 2011
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencingHao Hu, Klaus Wrogemann, Vera Kalscheuer, et al.
Scientific Reports|April 14, 2018
Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disabilityMatthias Bosshard, Rossana Aprigliano, Cristina Gattiker, et al.
EMBO Molecular Medicine|February 20, 2015
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and functionZeynep Okray, Celine E F de Esch, Hilde Van Esch, et al.
Human Molecular Genetics|June 19, 2003
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behaviorSuzanna G M Frints, Peter Marynen, Dieter Hartmann, et al.
American Journal of Human Genetics|August 5, 2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch, Marijke Bauters, Jaakko Ignatius, et al.
European Journal of Human Genetics : EJHG|July 19, 2012
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplicationsOrianne Philippe, Marlène Rio, Valérie Malan, et al.
Cancers|January 1, 2020
Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert PanelGuy Froyen, Marie Le Mercier, Els Lierman, et al.
Clinical Chemistry|July 20, 2025
Diagnostic Value of Digital Estimates of Trophoblastic Mosaicism in Genome-Wide Cell-Free Fetal DNA ScreeningGeert A Martens, Dieter De Smet, Guy Froyen, et al.
Pageof 8

Showing results (41-50 of 77) with videos related to

Sort By:
Pageof 8
The HUGO Journal|June 11, 2010
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencingHao Hu, Klaus Wrogemann, Vera Kalscheuer, et al.
Human Genetics|March 3, 2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy Froyen, Marijke Bauters, Jackie Boyle, et al.
The HUGO Journal|August 13, 2011
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencingHao Hu, Klaus Wrogemann, Vera Kalscheuer, et al.
Scientific Reports|April 14, 2018
Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disabilityMatthias Bosshard, Rossana Aprigliano, Cristina Gattiker, et al.
EMBO Molecular Medicine|February 20, 2015
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and functionZeynep Okray, Celine E F de Esch, Hilde Van Esch, et al.
Human Molecular Genetics|June 19, 2003
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behaviorSuzanna G M Frints, Peter Marynen, Dieter Hartmann, et al.
American Journal of Human Genetics|August 5, 2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch, Marijke Bauters, Jaakko Ignatius, et al.
European Journal of Human Genetics : EJHG|July 19, 2012
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplicationsOrianne Philippe, Marlène Rio, Valérie Malan, et al.
Cancers|January 1, 2020
Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert PanelGuy Froyen, Marie Le Mercier, Els Lierman, et al.
Clinical Chemistry|July 20, 2025
Diagnostic Value of Digital Estimates of Trophoblastic Mosaicism in Genome-Wide Cell-Free Fetal DNA ScreeningGeert A Martens, Dieter De Smet, Guy Froyen, et al.
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