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2025
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., 13-mrt.-2025, (E-pub ahead of print) In: American Journal of Medical Genetics. Part A. 9 blz., e64038.
Onderzoeksoutput: Article › Academic › peer review

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2023
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: Article › Academic › peer review

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3 Citaten (Scopus)

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The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Rraku, E., Kerstjens-Frederikse, W. S., Swertz, M. A., Dijkhuizen, T., van Ravenswaaij-Arts, C. M. A. & Engwerda, A., 24-mrt.-2023, In: Orphanet journal of rare diseases. 18, 1, 19 blz., 68.
Onderzoeksoutput: Article › Academic › peer review

Open Access
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2 Citaten (Scopus)

135 Downloads (Pure)