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Wouter Steyaert

Showing results (11-20 of 37) with videos related to

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Orphanet Journal of Rare Diseases|October 2, 2013
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humansSofie Symoens, Fransiska Malfait, Sanne D'hondt, et al.
The Journal of Investigative Dermatology|September 30, 2014
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticumMohammad J Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, et al.
The Journal of Biological Chemistry|August 27, 2022
G protein-coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulinMatthew J Varney, Wouter Steyaert, Paul J Coucke, et al.
Circulation. Genomic and Precision Medicine|June 8, 2018
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the <i>FBN1</i> Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific GuidelineLaura Muiño-Mosquera, Felke Steijns, Tjorven Audenaert, et al.
Nucleic Acids Research|June 17, 2022
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing dataGelana Khazeeva, Karolis Sablauskas, Bart van der Sanden, et al.
American Journal of Medical Genetics. Part A|October 10, 2019
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrumIlse Meerschaut, Aude Beyens, Wouter Steyaert, et al.
Scientific Reports|October 15, 2016
CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalisThomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, et al.
Molecular Genetics and Metabolism|September 22, 2014
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingFrederic R Acke, Fransiska Malfait, Olivier M Vanakker, et al.
JACC. Basic to Translational Science|April 23, 2026
Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan SyndromeKaro De Rycke, Marina Horvat, Lisa Caboor, et al.
Nature Communications|October 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variationWouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, et al.
Pageof 4

Showing results (11-20 of 37) with videos related to

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Pageof 4
Orphanet Journal of Rare Diseases|October 2, 2013
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humansSofie Symoens, Fransiska Malfait, Sanne D'hondt, et al.
The Journal of Investigative Dermatology|September 30, 2014
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticumMohammad J Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, et al.
The Journal of Biological Chemistry|August 27, 2022
G protein-coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulinMatthew J Varney, Wouter Steyaert, Paul J Coucke, et al.
Circulation. Genomic and Precision Medicine|June 8, 2018
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the <i>FBN1</i> Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific GuidelineLaura Muiño-Mosquera, Felke Steijns, Tjorven Audenaert, et al.
Nucleic Acids Research|June 17, 2022
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing dataGelana Khazeeva, Karolis Sablauskas, Bart van der Sanden, et al.
American Journal of Medical Genetics. Part A|October 10, 2019
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrumIlse Meerschaut, Aude Beyens, Wouter Steyaert, et al.
Scientific Reports|October 15, 2016
CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalisThomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, et al.
Molecular Genetics and Metabolism|September 22, 2014
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingFrederic R Acke, Fransiska Malfait, Olivier M Vanakker, et al.
JACC. Basic to Translational Science|April 23, 2026
Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan SyndromeKaro De Rycke, Marina Horvat, Lisa Caboor, et al.
Nature Communications|October 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variationWouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, et al.
Pageof 4