Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
- DOI
- 10.1038/s41598-024-52691-3
- Published
- 2024 Jan 28
- Container
- Scientific reports
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1038/s41598-024-52691-3,
title = {Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.},
author = {Hennocq Q and Willems M and Amiel J and Arpin S and Attie-Bitach T and Bongibault T and Bouygues T and Cormier-Daire V and Corre P and Dieterich K and Douillet M and Feydy J and Galliani E and Giuliano F and Lyonnet S and Picard A and Porntaveetus T and Rio M and Rouxel F and Shotelersuk V and Toutain A and Yauy K and Geneviève D and Khonsari RH and Garcelon N},
year = {2024},
journal = {Scientific reports},
doi = {10.1038/s41598-024-52691-3},
url = {https://doi.org/10.1038/s41598-024-52691-3}
}RIS
TY - JOUR TI - Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome. AU - Hennocq Q AU - Willems M AU - Amiel J AU - Arpin S AU - Attie-Bitach T AU - Bongibault T AU - Bouygues T AU - Cormier-Daire V AU - Corre P AU - Dieterich K AU - Douillet M AU - Feydy J AU - Galliani E AU - Giuliano F AU - Lyonnet S AU - Picard A AU - Porntaveetus T AU - Rio M AU - Rouxel F AU - Shotelersuk V AU - Toutain A AU - Yauy K AU - Geneviève D AU - Khonsari RH AU - Garcelon N PY - 2024 JO - Scientific reports DO - 10.1038/s41598-024-52691-3 UR - https://doi.org/10.1038/s41598-024-52691-3 ER -
APA
Q, H., M, W., J, A., S, A., T, A., T, B., T, B., V, C., P, C., K, D., M, D., J, F., E, G., F, G., S, L., A, P., T, P., M, R., F, R., V, S., A, T., K, Y., D, G., RH, K., & N, G. (2024). Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.. Scientific reports. https://doi.org/10.1038/s41598-024-52691-3
Source records
- pubmed · retrieved 2026-09-27T00:34:34.834Z