Cargando…
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phe...
Autores principales: | Pantel, Jean T., Zhao, Max, Mensah, Martin A., Hajjir, Nurulhuda, Hsieh, Tzung-Chien, Hanani, Yair, Fleischer, Nicole, Kamphans, Tom, Mundlos, Stefan, Gurovich, Yaron, Krawitz, Peter M. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959962/ https://www.ncbi.nlm.nih.gov/pubmed/29623569 http://dx.doi.org/10.1007/s10545-018-0174-3 |
Ejemplares similares
-
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
por: Lee, Jessica J. Y., et al.
Publicado: (2018) -
The role of the clinician in the multi-omics era: are you ready?
por: van Karnebeek, Clara D. M., et al.
Publicado: (2018) -
The rendering of human phenotype and rare diseases in ICD-11
por: Chute, Christopher G.
Publicado: (2018) -
Applying the latest advances in genomics and phenomics for trait discovery in polyploid wheat
por: Borrill, Philippa, et al.
Publicado: (2018) -
Converging phenomics and genomics to study natural variation in plant photosynthetic efficiency
por: van Bezouw, Roel F. H. M., et al.
Publicado: (2019)