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Bone parameters in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder : a comparative cross-sectional study
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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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- Journal Article
- A1
- open access
Muscle strength, muscle mass and physical impairment in women with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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Patient perspectives on employment participation in the 'hypermobile Ehlers-Danlos syndrome'
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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 study
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COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
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Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study
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Subacromial space outlet in female patients with multidirectional instability based on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder measured by ultrasound
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The Ehlers-Danlos syndromes : expanding, redefining and reviewing the spectrum
(2019) -
Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome
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Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified
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Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families