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The Journal of Investigative Dermatology|April 18, 2014
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutationsAriana Kariminejad, Bita Bozorgmehr, Abdolhamid Najafi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2016
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis typeTim Van Damme, Alain Colige, Delfien Syx, et al.Orphanet Journal of Rare Diseases|February 28, 2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneitySmail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 20, 2016
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck SyndromeCharlotte Gistelinck, Paul Eckhard Witten, Ann Huysseune, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 18, 2023
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone DevelopmentBrecht Guillemyn, Hanna De Saffel, Jan Willem Bek, et al.Frontiers in Molecular Neuroscience|September 4, 2023
Analysis of matrisome expression patterns in murine and human dorsal root gangliaRobin Vroman, Rahel S Hunter, Matthew J Wood, et al.Matrix Biology : Journal of the International Society for Matrix Biology|March 20, 2018
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse modelSanne D'hondt, Brecht Guillemyn, Delfien Syx, et al.Cell Death Discovery|April 25, 2025
The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos SyndromeRamla Omar, Michelle Aw Lee, Laura Gonzalez-Trueba, et al.Human Mutation|March 19, 2021
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeTibbe Dhooge, Tim Van Damme, Delfien Syx, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 15, 2010
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndromeBrian P Kelley, Fransiska Malfait, Luisa Bonafe, et al.Pageof 15