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Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience

The diagnosis of rare genetic diseases is one of the most difficult areas in medicine. Whole-exome sequencing (WES) technology makes it easier to diagnose these diseases. In addition, next-generation phenotyping can help to diagnose computer-based algorithms. Detailed dysmorphologic findings of 25 p...

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Publicat a:Mol Syndromol
Autors principals: Elmas, Muhsin, Gogus, Basak
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109386/
https://ncbi.nlm.nih.gov/pubmed/32256296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505800
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