Heleen Diepstra

Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

Orly Elpeleg, Hana Antonická, Heleen Diepstra et al. · The American Journal of Human Genetics · 2006 · 193 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Analysis of dendritic cell trafficking using EGFP-transgenic mice

Andreas A. O. Eggert, Robbert van der Voort, Ruurd Torensma et al. · Immunology Letters · 2003 · 47 citations

Life Sciences, Cell Biology, Immunology +12

A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

An I. Jonckheere, Marije Hogeveen, Leo Nijtmans et al. · BMJ Case Reports · 2009 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Effect of Blood Sample Handling and Reverse Transcriptase–Polymerase Chain Reaction Assay Sensitivity on Detection of CK20 Expression in Healthy Donor Blood

F A Vlems, Richie Soong, Heleen Diepstra et al. · Diagnostic Molecular Pathology · 2002 · 20 citations

Medicine, Hematology, Pathology +10

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens et al. · Clinical Immunology · 2024 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17