Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

BACKGROUND: Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of choice in patients with suspected Mendelian diseases especially those that are heterogeneous in etiology and clinical presentation. Reporting large CES series can inform guidelines on best practices for test utili...

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Detalles Bibliográficos
Autores principales: Al‐Dewik, Nader, Mohd, Howaida, Al‐Mureikhi, Mariam, Ali, Rehab, Al‐Mesaifri, Fatma, Mahmoud, Laila, Shahbeck, Noora, El‐Akouri, Karen, Almulla, Mariam, Al Sulaiman, Reem, Musa, Sara, Al‐Marri, Ajayeb Al‐Nabet, Richard, Gabriele, Juusola, Jane, Solomon, Benjamin D., Alkuraya, Fowzan S., Ben‐Omran, Tawfeg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916397/
https://www.ncbi.nlm.nih.gov/pubmed/30919572
http://dx.doi.org/10.1002/ajmg.a.61126

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