Fleur S. van Dijk

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Cecilia Giunta, Matthias Baumann, Christine Fauth et al. · Genetics in Medicine · 2017 · 41 citations · Full text

Engineering, Immunodeficiencies, Genetic Epidemiology +22

A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta

Koert Gooijer, Arjan Harsevoort, Fleur S. van Dijk et al. · JBMR Plus · 2020 · 38 citations · Full text

Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Ines Kapferer‐Seebacher, Elizabeth Oakley-Hannibal, Ulrike Lepperdinger et al. · Genetics in Medicine · 2020 · 28 citations · Full text

Oral Cavity, Oral Hygiene, Pediatrics +5

Fatigue in adults with Osteogenesis Imperfecta

Arjan Harsevoort, Koert Gooijer, Fleur S. van Dijk et al. · BMC Musculoskeletal Disorders · 2020 · 27 citations · Full text

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

Chloe Angwin, Neeti Ghali, Duncan Baker et al. · British Journal of Dermatology · 2019 · 25 citations