Flemming Skovby

Molecular basis of the Hartnup disorder

Detlef Bockenhauer, Robert Kleta, William A. Gahl, 2005 .

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.

Tissue-Specific Amino Acid Transporter Partners ACE2 and Collectrin Differentially Interact With Hartnup Mutations

Robert Kleta, Flemming Skovby, François Verrey, 2008, Gastroenterology.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Anita MacDonald, Flemming Skovby, Brian Fowler, 2014, Orphanet Journal of Rare Diseases.

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

Flemming Skovby, Arieh Cohen, Kristin Skogstrand, 2012, Molecular genetics and metabolism.

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Han G. Brunner, Hülya Kayserili, Flemming Skovby, 2000, Nature Genetics.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Francesca Forzano, Hui Zou, Susan Chang, 2008, Human molecular 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.