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A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

Autor: Alfares A; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia. Electronic address: fars@qu.edu.sa., Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Wani T; Molecular Genetics Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Alsahli S; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alluhaydan I; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Al Mutairi F; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alothaim A; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Albalwi M; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Al Subaie L; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alturki S; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Al-Twaijri W; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; Division of Neurology, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alrifai M; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; Division of Neurology, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Al-Rumayya A; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; Division of Neurology, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alameer S; Department of Pediatrics, King Khaled National Guard Hospital, Jeddah, Saudi Arabia., Faqeeh E; Molecular Genetics Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Alasmari A; Molecular Genetics Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Alsamman A; Molecular Genetics Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Tashkandia S; Molecular Genetics Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Alghamdi A; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alhashem A; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Tabarki B; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., AlShahwan S; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Hundallah K; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Wali S; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Al-Hebbi H; Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Babiker A; King Saud University Medical City and College of Medicine, Riyadh, Saudi Arabia., Mohamed S; King Saud University Medical City and College of Medicine, Riyadh, Saudi Arabia., Eyaid W; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Zada AAP; Molecular Genetics Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2017 Jun; Vol. 121 (2), pp. 91-95. Date of Electronic Publication: 2017 Apr 07.