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 · 296 citations · Full text

Bone Disease, Genetics, Osteoarthritis +6

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 · 61 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

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

Developmental Biology, Orthopaedic Surgery, Crtap Mutations +11

Complete COL1A1 allele deletions in osteogenesis imperfecta

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

Bone Disease, Developmental Biology, Orthopaedic Surgery +4

Compound-heterozygous Marfan syndrome

Fleur S. van Dijk, Ben C.J. Hamel, Yvonne Hilhorst‐Hofstee et al. · European Journal of Medical Genetics · 2008 · 33 citations

Mendelian Disorder, Genetic Disorder, Genetics +5