Fleur S van Dijk

Newly delineated syndrome of <i>c</i>ongenital <i>l</i>ipomatous <i>o</i>vergrowth, <i>v</i>ascular malformations, and <i>e</i>pidermal nevi (CLOVE syndrome) in seven patients

Julie C. Sapp, Joyce Turner, Jiddeke M. van de Kamp et al. · American Journal of Medical Genetics Part A · 2007 · 241 citations

Medicine, Plastic Surgery, Genodermatoses +7

Beneficial Outcome of Losartan Therapy Depends on Type of <i>FBN1</i> Mutation in Marfan Syndrome

Romy Franken, Alexander W. den Hartog, Teodora Radonic et al. · Circulation Cardiovascular Genetics · 2015 · 165 citations · Full text

Medicine, Cardiology, Genetics +15

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Fleur S van Dijk, Peter H. Byers, Raymond Dalgleish et al. · European Journal of Human Genetics · 2011 · 141 citations · Full text

Medicine, Genetics, Molecular Genetics +15

<i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections

Dimitra Micha, Dongchuan Guo, Yvonne Hilhorst‐Hofstee et al. · Human Mutation · 2015 · 98 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Fleur S van Dijk, Oliver Semler, Julia Etich et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Medicine, Genetics, Molecular Biology +12