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British Journal of Haematology|November 30, 2004
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disordersAnne De Paepe, Fransiska MalfaitBlood Reviews|July 14, 2009
Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatmentFransiska Malfait, Anne De PaepeAdvances in Experimental Medicine and Biology|January 21, 2014
The Ehlers-Danlos syndromeFransiska Malfait, Anne De PaepeAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 10, 2005
Molecular genetics in classic Ehlers-Danlos syndromeFransiska Malfait, Anne De PaepePlos Genetics|February 1, 2021
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfectaDelfien Syx, Yoshihiro Ishikawa, Jan Gebauer, et al.Molecular Genetics & Genomic Medicine|March 5, 2020
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiencyCharlotte K Lautrup, Keng W Teik, Ai Unzaki, et al.The Journal of Investigative Dermatology|March 15, 2024
NRF2 Shortage in Human Skin Fibroblasts Dysregulates Matrisome Gene Expression and Affects Collagen FibrillogenesisMélanie Salamito, Benjamin Gillet, Delfien Syx, et al.Human Mutation|February 24, 2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesisDelfien Syx, Tim Van Damme, Sofie Symoens, et al.Frontiers in Cell and Developmental Biology|December 28, 2020
b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage RegionSarah Delbaere, Adelbert De Clercq, Shuji Mizumoto, et al.Human Genetics|January 25, 2023
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataractTamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, et al.Pageof 15