Kristien Hoornaert

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11

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

Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal et al. · American Journal of Medical Genetics Part A · 2015 · 94 citations · Full text

Short Stature, Genetics, Related Phenotype +22

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Kristien Hoornaert · Journal of Medical Genetics · 2005 · 89 citations · Full text

Czech dysplasia metatarsal type: another type II collagen disorder

Kristien Hoornaert, Ivo Mařík, K. Kozlowski et al. · European Journal of Human Genetics · 2007 · 46 citations · Full text

Thumb Hypoplasia, Histopathology, Pathology +4

Efficacy of Flow- vs Impedance-Guided Autoadjustable Continuous Positive Airway Pressure

Dirk Pevernagie, Pascal Proot, Katrien Hertegonne et al. · CHEST Journal · 2004 · 35 citations

Interventional Pulmonology, Ventilation, Biomedical Engineering +3