Comprehensive genotype-phenotype analysis in POLR3-related disorders.
- DOI
- 10.1016/j.xhgg.2025.100481
- Published
- 2025 Oct 9
- Container
- HGG advances
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1016/j.xhgg.2025.100481,
title = {Comprehensive genotype-phenotype analysis in POLR3-related disorders.},
author = {Michell-Robinson MA and Perrier S and Gauthier S and Derksen A and Sabbagh Q and Girbig M and Misiaszek AD and Pizzino AM and Renaud DL and De Assis Pereira D and Okuda P and Karoleska LM and Keller S and Chong K and Gauquelin L and Brais B and Leube B and Grider T and Shy ME and Schüle R and Minnerop M and Bertini E and Nicita F and Tonduti D and Müller CW and Vanderver A and Wolf NI and Bernard G},
year = {2025},
journal = {HGG advances},
doi = {10.1016/j.xhgg.2025.100481},
url = {https://doi.org/10.1016/j.xhgg.2025.100481}
}RIS
TY - JOUR TI - Comprehensive genotype-phenotype analysis in POLR3-related disorders. AU - Michell-Robinson MA AU - Perrier S AU - Gauthier S AU - Derksen A AU - Sabbagh Q AU - Girbig M AU - Misiaszek AD AU - Pizzino AM AU - Renaud DL AU - De Assis Pereira D AU - Okuda P AU - Karoleska LM AU - Keller S AU - Chong K AU - Gauquelin L AU - Brais B AU - Leube B AU - Grider T AU - Shy ME AU - Schüle R AU - Minnerop M AU - Bertini E AU - Nicita F AU - Tonduti D AU - Müller CW AU - Vanderver A AU - Wolf NI AU - Bernard G PY - 2025 JO - HGG advances DO - 10.1016/j.xhgg.2025.100481 UR - https://doi.org/10.1016/j.xhgg.2025.100481 ER -
APA
MA, M., S, P., S, G., A, D., Q, S., M, G., AD, M., AM, P., DL, R., D, D. A. P., P, O., LM, K., S, K., K, C., L, G., B, B., B, L., T, G., ME, S., R, S., M, M., E, B., F, N., D, T., CW, M., A, V., NI, W., & G, B. (2025). Comprehensive genotype-phenotype analysis in POLR3-related disorders.. HGG advances. https://doi.org/10.1016/j.xhgg.2025.100481
Source records
- pubmed · retrieved 2026-09-25T22:22:39.977Z