Rraku E - Search Results

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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 NFS, Swertz MA, Plantinga M, Kerstjens-Frederikse WS, Ranchor AV, van Ravenswaaij-Arts CMA. Engwerda A, et al. Among authors: rraku e. Orphanet J Rare Dis. 2023 Mar 19;18(1):60. doi: 10.1186/s13023-023-02657-x. Orphanet J Rare Dis. 2023. PMID: 36935495 Free PMC article.

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.

Rraku E, Kerstjens-Frederikse WS, Swertz MA, Dijkhuizen T, van Ravenswaaij-Arts CMA, Engwerda A. Rraku E, et al. Orphanet J Rare Dis. 2023 Mar 24;18(1):68. doi: 10.1186/s13023-023-02670-0. Orphanet J Rare Dis. 2023. PMID: 36964621 Free PMC article. Review.

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