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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 2, 2017
A framework for the classification of joint hypermobility and related conditionsMarco Castori, Brad Tinkle, Howard Levy, et al.Matrix Biology : Journal of the International Society for Matrix Biology|November 22, 2018
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiencyHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.Clinical and Experimental Rheumatology|May 19, 2022
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reportsMarlies Colman, Marco Castori, Lucia Micale, et al.Human Mutation|December 8, 2004
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patientsFransiska Malfait, Paul Coucke, Sofie Symoens, et al.American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.Current Pharmaceutical Design|July 16, 2009
A review of the ADAMTS family, pharmaceutical targets of the futureMicky D Tortorella, Fransiska Malfait, Ruteja A Barve, et al.JCI Insight|August 26, 2025
B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndromeRoméo Milan Diana, Benjamin Jolivet, Jean-Baptiste Vincourt, et al.Physiotherapy|February 7, 2020
The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the ehlers-danlos syndrome (heds) or hypermobility spectrum disorder (hsd) with multidirectional shoulder instability: an observational studyValentien Spanhove, Inge De Wandele, Birgitte Hougs Kjær, et al.Nature Reviews. Disease Primers|August 1, 2020
The Ehlers-Danlos syndromesFransiska Malfait, Marco Castori, Clair A Francomano, et al.Human Molecular Genetics|June 23, 2018
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndromeTim Van Damme, Xiaomeng Pang, Brecht Guillemyn, et al.Pageof 15