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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.Frontiers in Genetics|October 29, 2021
Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational PotentialRobin Vroman, Anne-Marie Malfait, Rachel E Miller, et al.Human Mutation|July 15, 2021
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndromeMarlies Colman, Delfien Syx, Inge De Wandele, 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.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.Disease Markers|October 28, 2015
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian FamilyDelfien Syx, Sofie Symoens, Wouter Steyaert, et al.Plos One|May 26, 2011
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvementSofie Symoens, Fransiska Malfait, Philip Vlummens, 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.Orphanet Journal of Rare Diseases|November 1, 2012
Hearing impairment in Stickler syndrome: a systematic reviewFrederic R E Acke, Ingeborg J M Dhooge, Fransiska Malfait, et al.Pageof 15