Edwin C.M. Mariman

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

Nathalie M.J. van der Put, F. Trijbels, Lambertus P. van den Heuvel et al. · The Lancet · 1995 · 871 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Localization of the gene for Cowden disease to chromosome 10q22–23

Marcel Nelen, G.W. Padberg, E Peeters et al. · Nature Genetics · 1996 · 670 citations

Life Sciences, Genetics, Molecular Genetics +10

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

Hannie Kremer, Robert Kraaij, S. P. A. Toledo et al. · Nature Genetics · 1995 · 359 citations · Full text

Medicine, Endocrinology, Genetics +15

Ultrafiltration combined with size exclusion chromatography efficiently isolates extracellular vesicles from cell culture media for compositional and functional studies

Birke J. Benedikter, Freek G. Bouwman, Tanja Vajen et al. · Scientific Reports · 2017 · 318 citations · Full text

Life Sciences, Biochemistry, Cell Biology +17

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

C. Ruth Jamieson, Ineke van der Burgt, Angela F. Brady et al. · Nature Genetics · 1994 · 290 citations

Life Sciences, Genetics, Molecular Genetics +9