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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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COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
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The Ehlers-Danlos syndromes, rare types
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
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- Journal Article
- A1
- open access
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta