المؤلفون: Alharby E; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Saleh M; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alameer S; King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Almuntashri M; Department of Radiology, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Pastore A; National Institute for Medical Research, The Ridgeway, Mill Hill, London, UK., Samman MA; Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Alnawfal AM; Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Zaytuni D; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Alharbi G; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Almannai M; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alasmari A; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Mahmoud AA; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Alwadei AH; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Jad L; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., AlOtaibi A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Al-Hakami F; King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Eyaid W; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA., Almontashiri NAM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia. nmontashri@taibahu.edu.sa.; Faculty of Applied Medical Sciences, Taibah University, Almadinah Almunwarah, Saudi Arabia. nmontashri@taibahu.edu.sa.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Dec; Vol. 22 (12), pp. 2071-2080. Date of Electronic Publication: 2020 Aug 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Aspartate-Ammonia Ligase*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/genetics , Microcephaly*, Humans ; Retrospective Studies ; Saudi Arabia/epidemiology

المؤلفون: Del Caño-Ochoa F; Genome Dynamics and Function Program, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain.; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-Instituto de Salud Carlos III, Valencia, Spain.; Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain., Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA., Abedalthagafi M; Genomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Almannai M; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Cohn RD; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Elpeleg O; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Houlden H; Department of Neuromuscular disorders, UCL Institute of Neurology University College, London, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA., Manzini MC; Department of Neuroscience and Cell Biology and Child Health Institute of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA., Maroofian R; Department of Neuromuscular disorders, UCL Institute of Neurology University College, London, UK., Muriello M; Department of Pediatrics/Division of Genetics, Medical College of Wisconsin, Milwaukee, WI, USA.; Genomic Science and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Al-Otaibi A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Patel H; Department of Neurology (Section of pediatric neurology) Children's Hospital of Wisconsin, Medical of College of Wisconsin, Milwaukee, WI, USA., Shimon E; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Sutton VR; Department of Molecular, Human Genetics Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA., Toosi MB; Department of Pediatric Diseases, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Wolfe LA; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA. hudson@sbpdiscovery.org., Ramón-Maiques S; Genome Dynamics and Function Program, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain. santiago.ramon@cbm.csic.es.; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-Instituto de Salud Carlos III, Valencia, Spain. santiago.ramon@cbm.csic.es.; Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain. santiago.ramon@cbm.csic.es.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Oct; Vol. 22 (10), pp. 1598-1605. Date of Electronic Publication: 2020 May 28.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Aspartate Carbamoyltransferase* , Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)*, Cell Line ; Dihydroorotase ; Humans ; Uridine