Showing results (21-30 of 59) with videos related to

Sort By:
Pageof 6
American Journal of Physiology. Cell Physiology|August 22, 2022
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromesDelfien Syx, Sarah Delbaere, Catherine Bui, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature reviewMarlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, et al.
Human Molecular Genetics|January 19, 2019
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfectaBrecht Guillemyn, Hülya Kayserili, Lynn Demuynck, et al.
American Journal of Medical Genetics. Part A|June 10, 2016
RIN2 syndrome: Expanding the clinical phenotypeSimonetta Rosato, Delfien Syx, Ivan Ivanovski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2019
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrixSarah Delbaere, Tibbe Dhooge, Delfien Syx, et al.
Human Genetics|April 29, 2010
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)Delfien Syx, Fransiska Malfait, Lut Van Laer, et al.
Human Mutation|January 23, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bondSarah Naessens, Julie De Zaeytijd, Delfien Syx, et al.
European Journal of Pain (London, England)|April 20, 2022
Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome: A case-control studyInge De Wandele, Marlies Colman, Linda Hermans, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulationMarlies Colman, Delfien Syx, Inge de Wandele, et al.
Pain|June 3, 2020
Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndromeDelfien Syx, Rachel E Miller, Alia M Obeidat, et al.
Pageof 6