Marja E. Jakobs

LAD-1/variant syndrome is caused by mutations in FERMT3

Taco W. Kuijpers, Edith van de Vijver, Marian A. J. Weterman et al. · Blood · 2008 · 221 citations · Full text

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

Lodewijk IJlst, Jos P.N. Ruiter, J.M.N. Hoovers et al. · Journal of Clinical Investigation · 1996 · 163 citations · Full text

Mutant Protein, Genetics, Molecular Biology +18

Human T-cell memory consists mainly of unexpanded clones

Paul L. Klarenbeek, Paul P. Tak, Barbera D. C. van Schaik et al. · Immunology Letters · 2010 · 122 citations

Human Cell, T-regulatory Cell, Memory +3

A Sensitive Assay for Virus Discovery in Respiratory Clinical Samples

Michèl de Vries, Martin Deijs, Marta Canuti et al. · PLoS ONE · 2011 · 88 citations · Full text

Viral Replication, Ribosomal Rna, Viral Diagnostics +17

SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?

Katja Ritz, Barbera D. C. van Schaik, Marja E. Jakobs et al. · European Journal of Human Genetics · 2010 · 88 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Neurogenomics +15