E. (Eleana) Rraku

MD/PhD kandidate

Faculteit Medische Wetenschappen/UMCG

Telefoon:

E-mail:

e.rraku umcg.nl

ORCID Research Portal

Publicaties

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 › › 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-mrt.-2023, In: Orphanet journal of rare diseases. 18, 1, 19 blz., 68.

Onderzoeksoutput › › 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, blz. 367-367 1 blz.

Onderzoeksoutput ›

Alle (3) publicaties

Bekijk volledig onderzoeksprofiel