B. G. A. ter Haar

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs

W.O. Renier, F. A. E. Nabben, T. W. J. Hustinx et al. · Clinical Genetics · 1983 · 46 citations

Medicine, Genetics, Pediatrics +17

Progressive Idiopathic Strio-Pallido-Dentate Calcinosis (Fahr’s Disease) with Autosomal Recessive Inheritance

Minke Smits, F.J.M. Gabreëls, H.O.M. Thijssen et al. · European Neurology · 2008 · 45 citations

Medicine, Pathology, Cranial Nerve Disorders +12

Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity

J.W. Delleman, J. W. E. Oorthuys, E. M. Bleeker‐Wagemakers et al. · Clinical Genetics · 1984 · 44 citations

Medicine, Ophthalmology, Pathology +16

Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins

W.O. Renier, F.J.M. Gabreëls, T. W. J. Hustinx et al. · Acta Neuropathologica · 1981 · 41 citations

Life Sciences, Genetics, Pediatrics +7

Karyotype instability with multiple 7/14 and 7/7 rearrangements

T. W. J. Hustinx, J. M. J. C. Scheres, Corry M.R. Weemaes et al. · Human Genetics · 1979 · 41 citations

Life Sciences, Genetics, Molecular Genetics +13