Real-world comparison of genome- and exome-based diagnostic workflows in a pediatric Albanian rare disease cohort.
- DOI
- 10.1186/s12920-026-02450-2
- Published
- 2026 Aug 11
- Container
- BMC medical genomics
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1186/s12920-026-02450-2,
title = {Real-world comparison of genome- and exome-based diagnostic workflows in a pediatric Albanian rare disease cohort.},
author = {Cullufi P and Tabaku M and Skrahin A and Tomori S and Velmishi V and Dervishi E and Hoxha G and Gjikopulli A and Troja E and Tako A and Skrahina V and Rolfs A},
year = {2026},
journal = {BMC medical genomics},
doi = {10.1186/s12920-026-02450-2},
url = {https://doi.org/10.1186/s12920-026-02450-2}
}RIS
TY - JOUR TI - Real-world comparison of genome- and exome-based diagnostic workflows in a pediatric Albanian rare disease cohort. AU - Cullufi P AU - Tabaku M AU - Skrahin A AU - Tomori S AU - Velmishi V AU - Dervishi E AU - Hoxha G AU - Gjikopulli A AU - Troja E AU - Tako A AU - Skrahina V AU - Rolfs A PY - 2026 JO - BMC medical genomics DO - 10.1186/s12920-026-02450-2 UR - https://doi.org/10.1186/s12920-026-02450-2 ER -
APA
P, C., M, T., A, S., S, T., V, V., E, D., G, H., A, G., E, T., A, T., V, S., & A, R. (2026). Real-world comparison of genome- and exome-based diagnostic workflows in a pediatric Albanian rare disease cohort.. BMC medical genomics. https://doi.org/10.1186/s12920-026-02450-2
Source records
- pubmed · retrieved 2026-11-10T18:58:18.518Z