Showing results (11-20 of 150) with videos related to

Sort By:
Pageof 15
JIMD Reports|September 14, 2022
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndromeMahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, 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.
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.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2021
Pain in the Ehlers-Danlos syndromes: Mechanisms, models, and challengesFransiska Malfait, Marlies Colman, Robin Vroman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2021
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagenTibbe Dhooge, Delfien Syx, Trinh Hermanns-Lê, et al.
Human Mutation|September 2, 2022
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanismsMarlies Colman, Robin Vroman, Tibbe Dhooge, et al.
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.
Pageof 15