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Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
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.
  • Al-Dewik N; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Mohd H; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.
  • Al-Mureikhi M; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Ali R; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Al-Mesaifri F; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Mahmoud L; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Shahbeck N; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • El-Akouri K; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Almulla M; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Al Sulaiman R; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Musa S; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Al-Marri AA; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Richard G; Laboratory Medicine and Pathology, Hamad Medical Corporation, Qatar.
  • Juusola J; Clinical Genomics Program, GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Solomon BD; Clinical Genomics Program, GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Alkuraya FS; Clinical Genomics Program, GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Ben-Omran T; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Am J Med Genet A ; 179(6): 927-935, 2019 06.
Article en En | MEDLINE | ID: mdl-30919572
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Familia / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Secuenciación del Exoma / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Familia / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Secuenciación del Exoma / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article