Jeannette Hoogeboom

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

Cathryn Poulton, Renske Oegema, Daphne Heijsman et al. · Neurogenetics · 2012 · 78 citations

Medicine, Genetics, Neurology +10

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Stephen R.F. Twigg, Christian Babbs, Marijke E.P. van den Elzen et al. · Human Molecular Genetics · 2013 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Anneke J.A. Kievit, Federico Tessadori, Hannie Douben et al. · European Journal of Human Genetics · 2018 · 69 citations · Full text

Life Sciences, Molecular Genetics, Human Genetics +1

Unexpected life-threatening complications in Kabuki syndrome

Mieke M. van Haelst, Alice S. Brooks, Jeannette Hoogeboom et al. · American Journal of Medical Genetics · 2000 · 37 citations

Medicine, Pediatrics, Developmental Pediatrics +12

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

Joyce M.G. Florisson, Irene M.J. Mathijssen, Belinda Dumee et al. · American Journal of Medical Genetics Part A · 2013 · 20 citations

Life Sciences, Genetics, Molecular Genetics +16