Klaus W. Ruprecht

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +9

Spontaneous and induced chromosomal instability in Werner syndrome

E. Gebhart, Ralph H. Bauer, U. Raub et al. · Human Genetics · 1988 · 140 citations

Chromatin, Genome Instability, Werner Syndrome +8

Surgical removal of pontomesencephalic cavernous hemangiomas

R. Fahlbusch, C. Strauss, W. Huk et al. · Neurosurgery · 1990 · 127 citations

Vascular Malformation, Surgery, Brain Stem +19

Nine Cases of Cavernous Hemangioma of the Retina

Elmar P. Messmer, H. Laqua, A Wessing et al. · American Journal of Ophthalmology · 1983 · 66 citations

Ophthalmology, Surgical Pathology, Vascular Malformation +3

Bilateral Diffuse Choroiditis and Exudative Retinal Detachments with Evidence of Lyme Disease

A. Bialasiewicz, Klaus W. Ruprecht, Gottfried O.H. Naumann et al. · American Journal of Ophthalmology · 1988 · 60 citations

Ocular Disease, Vitreous Body, Ophthalmology +7