L. A. Sandkuyl

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

Egbert Bakker, Nicole Goor, Klaus Wrogemann et al. · The Lancet · 1985 · 376 citations

Pediatrics, Diagnosis, Degenerative Disease +4

Tissue-specific splicing mutation in acute intermittent porphyria.

Bernard Grandchamp, C. Picat, Vincent Mignotte et al. · Proceedings of the National Academy of Sciences · 1989 · 122 citations · Full text

Biology, Genetic Disorder, Natural Sciences +14

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

Cisca Wijmenga, George W. Padberg, Petra Moerer et al. · Genomics · 1991 · 119 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.

M. P. Klinkhamer, Nicole A. Groen, Gerard C. van der Zon et al. · The EMBO Journal · 1989 · 78 citations · Full text

Insulin Resistance, Metabolic Syndrome, Molecular Pharmacology +10

Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity

E. J. B. M. Mensink, A. Thompson, J. D. L. Schot et al. · Human Genetics · 1986 · 63 citations

Genetic Analysis, Allelic Variant, X-linked Agammaglobulinemia +9