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Anne De Paepe

Showing results (81-90 of 236) with videos related to

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Scientific Reports|October 31, 2018
Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessmentAnnekatrien Boel, Wouter Steyaert, Nina De Rocker, et al.
Human Mutation|June 15, 2012
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteriaSofie Symoens, Delfien Syx, Fransiska Malfait, et al.
American Journal of Medical Genetics. Part A|March 7, 2017
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndromeSofie Symoens, Wouter Steyaert, Lynn Demuynck, et al.
Clinical Implant Dentistry and Related Research|July 29, 2014
An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant FailureJan Cosyn, Véronique Christiaens, Vincent Koningsveld, et al.
Seminars in Arthritis and Rheumatism|June 28, 2014
Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controlsInge De Wandele, Patrick Calders, Wim Peersman, et al.
Human Molecular Genetics|January 23, 2019
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndromeDelfien Syx, Inge De Wandele, Sofie Symoens, et al.
Human Mutation|September 16, 2010
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 geneFransiska Malfait, Delfien Syx, Philip Vlummens, et al.
European Journal of Medical Genetics|September 22, 2009
Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experienceKaren Buysse, Barbara Delle Chiaie, Rudy Van Coster, et al.
Clinical Dysmorphology|April 7, 2017
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature reviewMehmet B Duz, Emre Kirat, Paul J Coucke, et al.
The British Journal of Ophthalmology|September 4, 2009
Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticumJulie De Zaeytijd, Olivier M Vanakker, Paul J Coucke, et al.
Pageof 24

Showing results (81-90 of 236) with videos related to

Sort By:
Pageof 24
Scientific Reports|October 31, 2018
Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessmentAnnekatrien Boel, Wouter Steyaert, Nina De Rocker, et al.
Human Mutation|June 15, 2012
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteriaSofie Symoens, Delfien Syx, Fransiska Malfait, et al.
American Journal of Medical Genetics. Part A|March 7, 2017
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndromeSofie Symoens, Wouter Steyaert, Lynn Demuynck, et al.
Clinical Implant Dentistry and Related Research|July 29, 2014
An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant FailureJan Cosyn, Véronique Christiaens, Vincent Koningsveld, et al.
Seminars in Arthritis and Rheumatism|June 28, 2014
Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controlsInge De Wandele, Patrick Calders, Wim Peersman, et al.
Human Molecular Genetics|January 23, 2019
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndromeDelfien Syx, Inge De Wandele, Sofie Symoens, et al.
Human Mutation|September 16, 2010
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 geneFransiska Malfait, Delfien Syx, Philip Vlummens, et al.
European Journal of Medical Genetics|September 22, 2009
Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experienceKaren Buysse, Barbara Delle Chiaie, Rudy Van Coster, et al.
Clinical Dysmorphology|April 7, 2017
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature reviewMehmet B Duz, Emre Kirat, Paul J Coucke, et al.
The British Journal of Ophthalmology|September 4, 2009
Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticumJulie De Zaeytijd, Olivier M Vanakker, Paul J Coucke, et al.
Pageof 24