Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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Hanneke van Deutekom
- Division Laboratories and Pharmacy, Section Clinical Genetics - Head of Bioinformatics
Person: Research Staff Other
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Recombinant Interleukin-1 Receptor antagonist is an effective first-line treatment strategy in new-onset systemic Juvenile Idiopathic Arthritis, irrespective of HLA-DRB1 background and IL1RN variants
Erkens, R. G. A., Calis, J. J. A., Verwoerd, A., De Roock, S., Ter Haar, N. M., Den Engelsman, G., Van der Veken, L. T., Ernst, R. F., Van Deutekom, H. W. M., Pickering, A., Scholman, R. C., Jansen, M. H. A., Swart, J. F., Sinha, R., Roth, J., Schulert, G. S., Grom, A. A., Van Loosdregt, J. & Vastert, S. J., Jan 2024, In: Arthritis & Rheumatology. 76, 1, p. 119-129 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases
Willems, A. P., van der Ham, M., Schiebergen-Bronkhorst, B. G. M., van Aalderen, M., de Barse, M. M. J., De Gruyter, F. E., van Hoek, I. N., Pras-Raves, M. L., de Sain-van der Velden, M. G. M., Prinsen, H. C. M. T., Verhoeven-Duif, N. M. & Jans, J. J. M., 2 Nov 2023, In: Frontiers in Molecular Biosciences. 10, 9 p., 1283083.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Downloads (Pure) -
Author Correction: Accurate detection of circulating tumor DNA using nanopore consensus sequencing (npj Genomic Medicine, (2021), 6, 1, (106), 10.1038/s41525-021-00272-y)
Marcozzi, A., Jager, M., Elferink, M., Straver, R., van Ginkel, J. H., Peltenburg, B., Chen, L-T., Renkens, I., van Kuik, J., Terhaard, C., de Bree, R., Devriese, L. A., Willems, S. M., Kloosterman, W. P. & de Ridder, J., Dec 2023, In: npj Genomic Medicine. 8, 1, 12.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile7 Downloads (Pure)
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Multiplex CRISPR-Cas enrichment of clinically relevant genomic repeat structures
Martin Elferink (Speaker)
28 Nov 2018Activity: Talk or presentation › Invited talk › Academic
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HGVS 2016
Martin Elferink (Speaker)
20 May 2016Activity: Participating in or organising an event › Participation in conference › Academic