Fleur S. van Dijk

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk, I. M. Nesbitt, Eline H. Zwikstra et al. · The American Journal of Human Genetics · 2009 · 299 citations · Full text

Medicine, Genetics, Molecular Genetics +9

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

Jan-Maarten Cobben, Marjan M. Weiss, Fleur S. van Dijk et al. · European Journal of Medical Genetics · 2014 · 63 citations

Life Sciences, Genetics, Molecular Genetics +14

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Fleur S. van Dijk, I. M. Nesbitt, Peter G. J. Nikkels et al. · European Journal of Human Genetics · 2009 · 54 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Complete COL1A1 allele deletions in osteogenesis imperfecta

Fleur S. van Dijk, Margriet Huizer, Ariana Kariminejad et al. · Genetics in Medicine · 2010 · 42 citations

Medicine, Genetics, Molecular Genetics +13

Compound-heterozygous Marfan syndrome

Fleur S. van Dijk, Ben C.J. Hamel, Yvonne Hilhorst‐Hofstee et al. · European Journal of Medical Genetics · 2008 · 34 citations