Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
- DOI
- 10.1016/j.gim.2024.101120
- Published
- 2024 Jun
- Container
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1016/j.gim.2024.101120,
title = {Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.},
author = {Ebstein F and Latypova X and Sharon Hung KY and Prado MA and Lee BH and Möller S and Wendlandt M and Zieba BA and Florenceau L and Vignard V and Poirier L and Toutain B and Moroni I and Dubucs C and Chassaing N and Horvath J and Prokisch H and Küry S and Bézieau S and Paulo JA and Finley D and Krüger E and Ghezzi D and Isidor B},
year = {2024},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
doi = {10.1016/j.gim.2024.101120},
url = {https://doi.org/10.1016/j.gim.2024.101120}
}RIS
TY - JOUR TI - Biallelic USP14 variants cause a syndromic neurodevelopmental disorder. AU - Ebstein F AU - Latypova X AU - Sharon Hung KY AU - Prado MA AU - Lee BH AU - Möller S AU - Wendlandt M AU - Zieba BA AU - Florenceau L AU - Vignard V AU - Poirier L AU - Toutain B AU - Moroni I AU - Dubucs C AU - Chassaing N AU - Horvath J AU - Prokisch H AU - Küry S AU - Bézieau S AU - Paulo JA AU - Finley D AU - Krüger E AU - Ghezzi D AU - Isidor B PY - 2024 JO - Genetics in medicine : official journal of the American College of Medical Genetics DO - 10.1016/j.gim.2024.101120 UR - https://doi.org/10.1016/j.gim.2024.101120 ER -
APA
F, E., X, L., KY, S. H., MA, P., BH, L., S, M., M, W., BA, Z., L, F., V, V., L, P., B, T., I, M., C, D., N, C., J, H., H, P., S, K., S, B., JA, P., D, F., E, K., D, G., & B, I. (2024). Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2024.101120
Source records
- pubmed · retrieved 2026-09-25T22:46:31.671Z