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Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel, Majid; Umair, Muhammad; Almuzzaini, Bader; Alsaif, Saif; AlMohaimeed, Sulaiman A; Almashary, Maher A; Alharbi, Wardah; Alayyar, Latifah; Alasiri, Abdulrahman; Ballow, Mariam; AlAbdulrahman, Abdulkareem; Alaujan, Monira; Nashabat, Marwan; Al-Odaib, Ali; Altwaijri, Waleed; Al-Rumayyan, Ahmed; Alrifai, Muhammad T; Alfares, Ahmed; AlBalwi, Mohammed; Tabarki, Brahim.
Afiliación
  • Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdullah specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Almuzzaini B; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alsaif S; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • AlMohaimeed SA; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Almashary MA; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alharbi W; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alayyar L; Department of Neonatology, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alasiri A; Pediatric Intensive Care Unit, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Ballow M; Pediatric Intensive Care Unit, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • AlAbdulrahman A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alaujan M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Nashabat M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Al-Odaib A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Altwaijri W; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Al-Rumayyan A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alrifai MT; Division of Genetics, Department of Pediatrics, King Abdullah specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alfares A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • AlBalwi M; King Salman Center for Disability Research, Riyadh, Saudi Arabia.
  • Tabarki B; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Ann Clin Transl Neurol ; 6(10): 2097-2103, 2019 10.
Article en En | MEDLINE | ID: mdl-31557427
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Enfermedades de los Ganglios Basales / Pruebas Genéticas / Tamizaje Neonatal Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Ann Clin Transl Neurol Año: 2019 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Enfermedades de los Ganglios Basales / Pruebas Genéticas / Tamizaje Neonatal Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Ann Clin Transl Neurol Año: 2019 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: Estados Unidos