Publication: Dysmorphology at a distance: results of a web-based diagnostic service
Dysmorphology at a distance: results of a web-based diagnostic service
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Douzgou, S., Clayton-Smith, J., Gardner, S., Day, R., Griffiths, P., Strong, K., Amiel, J., Baraitser, M., Brueton, L., Brunner, H., Chrzanowska, K., Dallapiccola, B., Del Campo Casanelles, M., Devriendt, K., Donnai, D., Fitzpatrick, D., Gillessen-Kaesbach, G., Houge, G., Kerr, B., … Zenker, M. (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics, 22(3), 327–332. https://doi.org/10.1038/ejhg.2013.137
Abstract
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Abstract
In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System (DDS) was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (Submitting nodes), in 26 different European countries. We report the outcome of this service for 200 cases su
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- Douzgou, S
- Clayton-Smith, J
- Gardner, S
- Day, R
- Griffiths, P
- Strong, K
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Douzgou, S., Clayton-Smith, J., Gardner, S., Day, R., Griffiths, P., Strong, K., Amiel, J., Baraitser, M., Brueton, L., Brunner, H., Chrzanowska, K., Dallapiccola, B., Del Campo Casanelles, M., Devriendt, K., Donnai, D., Fitzpatrick, D., Gillessen-Kaesbach, G., Houge, G., Kerr, B., … Zenker, M. (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics, 22(3), 327–332. https://doi.org/10.1038/ejhg.2013.137
