A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)
- DOI
- 10.1016/j.ejmg.2018.11.010
- Published
- 2019-11
- Container
- European Journal of Medical Genetics
- Publisher
- Elsevier BV
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.ejmg.2018.11.010,
title = {A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)},
author = {André Mégarbané and Ghassan Hmaimess and Sami Bizzari and Lara El-Bazzal and Mahmoud Taleb Al-Ali and Samantha Stora and Valerie Delague and Stephany El-Hayek},
year = {2019},
journal = {European Journal of Medical Genetics},
doi = {10.1016/j.ejmg.2018.11.010},
url = {https://doi.org/10.1016/j.ejmg.2018.11.010}
}RIS
TY - JOUR TI - A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) AU - André Mégarbané AU - Ghassan Hmaimess AU - Sami Bizzari AU - Lara El-Bazzal AU - Mahmoud Taleb Al-Ali AU - Samantha Stora AU - Valerie Delague AU - Stephany El-Hayek PY - 2019 JO - European Journal of Medical Genetics DO - 10.1016/j.ejmg.2018.11.010 UR - https://doi.org/10.1016/j.ejmg.2018.11.010 ER -
APA
Mégarbané, A., Hmaimess, G., Bizzari, S., El-Bazzal, L., Al-Ali, M. T., Stora, S., Delague, V., & El-Hayek, S. (2019). A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). European Journal of Medical Genetics. https://doi.org/10.1016/j.ejmg.2018.11.010
Source records
- crossref · retrieved 2026-11-09T00:22:20.168Z