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Wouter Steyaert

Showing results (21-30 of 37) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2016
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAsCaroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, et al.
Human Mutation|December 16, 2014
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practiceKim De Leeneer, Jan Hellemans, Wouter Steyaert, et al.
Genes|July 27, 2022
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNAIlse Meerschaut, Wouter Steyaert, Thierry Bové, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesisElke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
Orphanet Journal of Rare Diseases|May 23, 2022
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, et al.
BMC Medical Genetics|February 17, 2016
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIPKhadim Shah, Raja Hussain Ali, Muhammad Ansar, et al.
American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.
European Journal of Human Genetics : EJHG|October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
Gastroenterology|January 12, 2026
Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal PolyposisAnna K Sommer, Iris B A W Te Paske, Erik A M Jansen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.
Pageof 4

Showing results (21-30 of 37) with videos related to

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Pageof 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2016
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAsCaroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, et al.
Human Mutation|December 16, 2014
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practiceKim De Leeneer, Jan Hellemans, Wouter Steyaert, et al.
Genes|July 27, 2022
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNAIlse Meerschaut, Wouter Steyaert, Thierry Bové, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesisElke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
Orphanet Journal of Rare Diseases|May 23, 2022
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, et al.
BMC Medical Genetics|February 17, 2016
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIPKhadim Shah, Raja Hussain Ali, Muhammad Ansar, et al.
American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.
European Journal of Human Genetics : EJHG|October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
Gastroenterology|January 12, 2026
Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal PolyposisAnna K Sommer, Iris B A W Te Paske, Erik A M Jansen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.
Pageof 4