Autor: "AlMohaimeed SA" - OpacWWW

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Tytuł:: Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Autorzy:: 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.; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, 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.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Almuzzaini B; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alsaif S; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Department of Neonatology, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
AlMohaimeed SA; Pediatric Intensive Care Unit, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Almashary MA; Pediatric Intensive Care Unit, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Alharbi W; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alayyar L; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alasiri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Ballow M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), 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; 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.
Al-Odaib A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; King Salman Center for Disability Research, Riyadh, Saudi Arabia.
Altwaijri W; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Al-Rumayyan A; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alrifai MT; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Alfares A; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Department of Pediatrics, Qassim University, Almulyda, Buraydah, Saudi Arabia.
AlBalwi M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Tabarki B; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Pokaż więcej
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Oct; Vol. 6 (10), pp. 2097-2103. Date of Electronic Publication: 2019 Sep 26.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Testing*
Neonatal Screening*
Basal Ganglia Diseases/*diagnosis
Basal Ganglia Diseases/*epidemiology
Membrane Transport Proteins/*genetics
Basal Ganglia Diseases/genetics ; Cohort Studies ; Female ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Pilot Projects ; Saudi Arabia/epidemiology ; Sequence Analysis, DNA
SCR Disease Name:: Basal ganglia disease, biotin-responsive

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