Associated Papers
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts.
Foehr R et al.
Orphanet Journal of Rare Diseases, 2024
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Bowen JM et al.
European Journal of Human Genetics : Ejhg, 2023
36977837 (PubMed )
Supplement: 41431_2023_1343_MOESM1_ESM.pdf
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
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