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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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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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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
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The Ehlers-Danlos syndromes
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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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- Journal Article
- A1
- open access
Ehlers-Danlos syndromes : state of the art on clinical practice guidelines
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A framework for the classification of joint hypermobility and related conditions
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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- Journal Article
- A1
- open access
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)