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Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
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Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
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- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
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Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
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Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome
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Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid
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Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
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Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
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Three arginine to cysteine substitutions 4 in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
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DUP25 remains unconfirmed