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A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
Alfares, Ahmed; Alfadhel, Majid; Wani, Tariq; Alsahli, Saud; Alluhaydan, Iram; Al Mutairi, Fuad; Alothaim, Ali; Albalwi, Mohammed; Al Subaie, Lamia; Alturki, Saeed; Al-Twaijri, Waleed; Alrifai, Muhammad; Al-Rumayya, Ahmed; Alameer, Seham; Faqeeh, Eissa; Alasmari, Ali; Alsamman, Abdulaziz; Tashkandia, Soha; Alghamdi, Abdulaziz; Alhashem, Amal; Tabarki, Brahim; AlShahwan, Saad; Hundallah, Khalid; Wali, Sami; Al-Hebbi, Homoud; Babiker, Amir; Mohamed, Sarar; Eyaid, Wafaa; Zada, Abdul Ali Peer.
Afiliação
  • 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.
Mol Genet Metab ; 121(2): 91-95, 2017 06.
Article em En | MEDLINE | ID: mdl-28454995
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Consanguinidade / Técnicas de Diagnóstico Molecular / Exoma Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Consanguinidade / Técnicas de Diagnóstico Molecular / Exoma Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article