Rutger Jan Nievelstein

A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver et al. · American Journal of Medical Genetics Part A · 2015 · 98 citations · Full text

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17

Radiological findings in autistic and developmentally delayed children

Mijke Zeegers, Jeroen van der Grond, Sarah Durston et al. · Brain and Development · 2006 · 51 citations

Medicine, Pediatrics, Radiology +14

Prevalence, risk factors, and optimal way to determine overweight, obesity, and morbid obesity in the first Dutch cohort of 2338 long-term survivors of childhood cancer: a DCCSS-LATER study

Vincent G. Pluimakers, Jenneke E. van Atteveld, Demi T.C. de Winter et al. · European Journal of Endocrinology · 2023 · 15 citations · Full text

Medicine, Nutrition, Oncology +15

A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Maarten Otter, Marijke R. Wevers, Marline Pisters et al. · Clinical Case Reports · 2017 · 13 citations · Full text

Life Sciences, Genetics, Neurology +17

Further delineation of the GDF6 related multiple synostoses syndrome

Paulien A. Terhal, Nienke E. Verbeek, Nine Knoers et al. · American Journal of Medical Genetics Part A · 2017 · 12 citations · Full text

Medicine, Genetics, Molecular Genetics +12