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Geert Mortier

Showing results (101-110 of 156) with videos related to

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Gene|December 21, 2016
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disabilityIlse M van der Werf, Anke Van Dijck, Edwin Reyniers, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2010
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1Barbara D'haene, Jan Hellemans, Margarita Craen, et al.
Journal of Medical Genetics|September 9, 2020
Delineation of a new fibrillin-2-opathy with evidence for a role of <i>FBN2</i> in the pathogenesis of carpal tunnel syndromeSilke Peeters, Arne Decramer, Stuart Alan Cain, et al.
Orphanet Journal of Rare Diseases|July 27, 2023
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosisMelita Irving, Moeenaldeen AlSayed, Paul Arundel, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Nosology and classification of genetic skeletal disorders: 2010 revisionMatthew L Warman, Valerie Cormier-Daire, Christine Hall, et al.
Human Mutation|May 12, 2007
Subtelomeric imbalances in phenotypically normal individualsIrina Balikova, Björn Menten, Thomy de Ravel, et al.
Advances in Therapy|May 15, 2024
European Achondroplasia Forum Practical Considerations for Following Adults with AchondroplasiaSvein Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
Human Mutation|April 25, 2015
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm GenesDorien Proost, Geert Vandeweyer, Josephina A N Meester, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|November 22, 2020
Clinical characterization of the first Belgian SCN5A founder mutation cohortEwa Sieliwonczyk, Maaike Alaerts, Tomas Robyns, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
Pageof 16

Showing results (101-110 of 156) with videos related to

Sort By:
Pageof 16
Gene|December 21, 2016
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disabilityIlse M van der Werf, Anke Van Dijck, Edwin Reyniers, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2010
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1Barbara D'haene, Jan Hellemans, Margarita Craen, et al.
Journal of Medical Genetics|September 9, 2020
Delineation of a new fibrillin-2-opathy with evidence for a role of <i>FBN2</i> in the pathogenesis of carpal tunnel syndromeSilke Peeters, Arne Decramer, Stuart Alan Cain, et al.
Orphanet Journal of Rare Diseases|July 27, 2023
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosisMelita Irving, Moeenaldeen AlSayed, Paul Arundel, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Nosology and classification of genetic skeletal disorders: 2010 revisionMatthew L Warman, Valerie Cormier-Daire, Christine Hall, et al.
Human Mutation|May 12, 2007
Subtelomeric imbalances in phenotypically normal individualsIrina Balikova, Björn Menten, Thomy de Ravel, et al.
Advances in Therapy|May 15, 2024
European Achondroplasia Forum Practical Considerations for Following Adults with AchondroplasiaSvein Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
Human Mutation|April 25, 2015
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm GenesDorien Proost, Geert Vandeweyer, Josephina A N Meester, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|November 22, 2020
Clinical characterization of the first Belgian SCN5A founder mutation cohortEwa Sieliwonczyk, Maaike Alaerts, Tomas Robyns, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
Pageof 16