Research output per year
Research output per year
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Dive into the research topics where Eleana Rraku is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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
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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-Mar-2023, In: Orphanet journal of rare diseases. 18, 1, 13 p., 60.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)88 Downloads (Pure) -
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-Mar-2023, In: Orphanet journal of rare diseases. 18, 1, 19 p., 68.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile79 Downloads (Pure) -
Unravelling terminal 6p deletions with the help of social media
Rraku, E., Engwerda, A., Geurink, J., Monsma, L., Bouman, P., Swertz, M. A., Dijkhuizen, T. & van Ravenswaaij-Arts, C. M. A., Apr-2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 367-367 1 p.Research output: Contribution to journal › Meeting Abstract › Academic
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-Frederikse, W. S. (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