Josefine Fuchs

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Flemming Skovby, Christian Hagemeier, P. Robinson, 2001, European Journal of Human Genetics.

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

Flemming Skovby, Christian Hagemeier, P. Robinson, 2002, Human mutation.