E. (Eleana) Rraku

MD/PhD candidate

Faculty of Medical Sciences

Telephone:

E-mail:

e.rraku umcg.nl

ORCID Research Portal

Publications

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

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

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

All (3) publications

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