Vingerafdruk
- 1 Soortgelijke profielen
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
Onderzoeksoutput
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Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions
Rraku, E., Medina, T. D., van Ravenswaaij-Arts, C. M. A., Slofstra, M. K., Swertz, M. A., Dijkhuizen, T., Johansson, L. F. & Engwerda, A., jan.-2026, In: Human mutation. 2026, 1, 12 blz., 5239482.Onderzoeksoutput › Academic › peer review
Open AccessBestand -
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
Volpi, J., Zhao, X., Owen, N., Evans, T., Holder-Espinasse, M., Lahiri, N., Sherlock, E., Poke, G., Breckpot, J., Devriendt, K., Cools, B., Brusco, A., Ferrero, G. B., Grosso, E., Vasudevan, P., Loddo, S., Novelli, A., Digilio, M. C., Engwerda, A. & Hitzert, M. & 13 anderen, , mrt.-2026, In: European Journal of Human Genetics. 34, blz. 333-339 7 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand2 Citaten (Scopus)3 Downloads (Pure) -
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views
Rraku, E., Engwerda, A., Medina, T. D., Swertz, M. A., Johansson, L. F., van Ravenswaaij-Arts, C. M. A. & Christiaans, I., jul.-2025, In: American Journal of Medical Genetics. Part A. 197, 7, 9 blz., e64038.Onderzoeksoutput › Academic › peer review
Open AccessBestand57 Downloads (Pure) -
The Chromosome 6 Project: a proof of concept for using parent-reported phenotypes to unravel the phenotypic spectrum of chromosome aberrations
Engwerda, A., 2024, [Groningen]: University of Groningen. 195 blz.Onderzoeksoutput
Open AccessBestand2077 Downloads (Pure) -
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
Engwerda, A., Frentz, B., Rraku, E., de Souza, N. F. S., Swertz, M. A., Plantinga, M., Kerstjens-Frederikse, W. S., Ranchor, A. V. & van Ravenswaaij-Arts, C. M. A., 19-mrt.-2023, In: Orphanet journal of rare diseases. 18, 1, 13 blz., 60.Onderzoeksoutput › Academic › peer review
Open AccessBestand7 Citaten (Scopus)179 Downloads (Pure)
Datasets
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Additional file 1 of The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Rraku, E. (Creator), Kerstjens, M. (Creator), Swertz, M. A. (Creator), Dijkhuizen, T. (Creator), Engwerda, A. (Creator) & Van Ravenswaaij-Arts, C. M. A. (Contributor), figshare, 13-aug.-2024
DOI: 10.6084/m9.figshare.26577497.v1, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_phenotypic_spectrum_of_terminal_and_subterminal_6p_deletions_based_on_a_social_media-derived_cohort_and_literature_review/26577497/1
Dataset
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Additional file 1 of The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Engwerda, A. (Creator), Kerstjens, M. (Creator), Corsten-Janssen, N. (Creator), Dijkhuizen, T. (Creator) & Van Ravenswaaij-Arts, C. M. A. (Contributor), figshare, 13-aug.-2024
DOI: 10.6084/m9.figshare.26575985, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_phenotypic_spectrum_of_terminal_6q_deletions_based_on_a_large_cohort_derived_from_social_media_and_literature_a_prominent_role_for_DLL1/26575985
Dataset