Flemming Skovby

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

Life Sciences, Biochemistry, Genetics +10

Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria

René Santer, Martina Kinner, C.L. Lassen et al. · Journal of the American Society of Nephrology · 2003 · 300 citations

Medicine, Genetics, Molecular Genetics +17

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

Simone M. R. Camargo, Dustin Singer, Victoria Makrides et al. · Gastroenterology · 2008 · 296 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

The Danish 22q11 research initiative

Henriette Schmock, Anders Vangkilde, Kit Melissa Larsen et al. · BMC Psychiatry · 2015 · 286 citations · Full text

Life Sciences, Genetics, Psychiatry +17

Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

Rikke Katrine Jentoft Olsen, Brage Storstein Andresen, Ernst Christensen et al. · Human Mutation · 2003 · 234 citations

Life Sciences, Genetics, Molecular Genetics +17