Jan E. Dumon

Mutations in the Connexin 26 Gene (<i>GJB2</i>) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

Robert J. Morell, Hung Jeff Kim, Linda J. Hood et al. · New England Journal of Medicine · 1998 · 544 citations

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

Patrick J. Willems, Irene Dijkstra, Bart Van Der Auwera et al. · Genomics · 1990 · 58 citations

Ependyma, Pediatric Hydrocephalus, Neuroanatomy +6

Segregation of the fragile X mutation from an affected male to his normal daughter

Patrick J. Willems, Bernadette Van Roy, Kristel De Boulle et al. · Human Molecular Genetics · 1992 · 58 citations

Cytogenetics, Genetics, Molecular Biology +16

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

Inge Buntinx, Patrick J. Willems, Silja E.C. Spitaels et al. · Journal of Medical Genetics · 1991 · 48 citations · Full text

Thumb Hypoplasia, Marfan Syndrome, Separate Mutation +11

Infantile Metachromatic Leukodystrophy

Jules G. Leroy, August F. Van Elsen, Jean‐Jacques Martin et al. · New England Journal of Medicine · 1973 · 46 citations

Arylsulfatase A, Urology, Surgical Pathology +15