Show
Sort by
-
Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome
-
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene
-
Mannose-binding lectin (MBL) genetic susceptibility for Alzheimer's disease
-
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphlism database
-
The molecular basis of classical Ehlers-Danlos Syndrome (EDS).
-
The molecular basis of classical Ehlers-Danlos syndrome (EDS)
-
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome
-
Acute intramural haematoma of the coeliac artery.
-
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).
-
A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features