Show
Sort by
-
- Journal Article
- A1
- open access
Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients
-
The genetics of soft connective tissue disorders
-
Marfan syndrome and related heritable thoracic aortic aneurysms and dissections
-
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
-
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
-
Criteria for definition of a complex abdominal wall hernia
-
- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
-
Compound heterozygous mutations of the TNXB gene cause primary myopathy
-
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
-
Reply to the letter to the editor by Marc Williams