H. Galjaard

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

Breakpoint Cluster Region, Fragile X Syndrome, Mendelian Disorder +11

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

Alessandra d’Azzo, A. T. Hoogeveen, Arnold Reuser et al. · Proceedings of the National Academy of Sciences · 1982 · 364 citations · Full text

Normal Human Fibroblasts, Glycobiology, Mature 64,000-Dalton Form +16

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Coleta Verheij, Cathy Bakker, Esther de Graaff et al. · Nature · 1993 · 340 citations · Full text

Fragile X Syndrome, Mendelian Disorder, Fmr-1 Gene Product +12

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen, Elly Verbeek, Nina Aula et al. · Nature Genetics · 1999 · 292 citations

Anion Transporter, Genetic Disorder, Natural Sciences +12

Expression of cDNA encoding the human “protective protein≓ associated with lysosomal β-galactosidase and neuraminidase: Homology to yeast proteases

Niels Galjart, Nynke Gillemans, Alan Harris et al. · Cell · 1988 · 219 citations

Protein Function, Protein Expression, Natural Sciences +10