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Utility of clinical exome sequencing in a complex Emirati pediatric cohort
Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the United Arab Emirates (UAE) has not been previously investigated, most likely due to the lack...
Autores principales: | Mahfouz, Nour Abu, Kizhakkedath, Praseetha, Ibrahim, Alia, El Naofal, Maha, Ramaswamy, Sathishkumar, Harilal, Divinlal, Qutub, Yasmeen, Uddin, Mohammed, Taylor, Alan, Alloub, Zeinab, AlBanna, Ammar, Abuhammour, Walid, Fathalla, Basil, Tayoun, Ahmad Abou |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Research Network of Computational and Structural Biotechnology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200174/ https://www.ncbi.nlm.nih.gov/pubmed/32382396 http://dx.doi.org/10.1016/j.csbj.2020.04.013 |
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