Browsing PubMed İndeksli Yayınlar Koleksiyonu by Subject "Whole-exome sequencing"
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Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience (Karger, 2020)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 ...