Autor: "Alhamoudi KM" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.
Autorzy:: Alhamoudi KM; Medical Genomics Research Department, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Barhoumi T; Medical Core Facility and Research Platforms, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Al-Eidi H; Medical Genomics Research Department, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Asiri A; Faculty of Applied Medical Sciences, University of Bisha, Al Nakhil, 225, Bisha, 67714, Kingdom of 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, P.O Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia.
Alaamery M; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Alharbi M; Medical Genomics Research Department, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Alhaidan Y; Medical Genomics Research Department, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Tabarki B; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.
Umair M; Medical Genomics Research Department, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Alfadhel M; Medical Genomics Research Department, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia. .; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2021 Jun 18; Vol. 11 (1), pp. 12861. Date of Electronic Publication: 2021 Jun 18.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Codon, Nonsense*
Genetic Predisposition to Disease*
Homozygote*
Abnormalities, Multiple/*genetics
Cardiomyopathy, Restrictive/*genetics
Developmental Disabilities/*genetics
Membrane Proteins/*genetics
Abnormalities, Multiple/diagnosis ; Alleles ; Calcium/metabolism ; Cardiomyopathy, Restrictive/diagnosis ; Cardiomyopathy, Restrictive/metabolism ; Cell Cycle/genetics ; Child, Preschool ; Consanguinity ; Developmental Disabilities/diagnosis ; Developmental Disabilities/metabolism ; Facies ; Female ; Genetic Association Studies/methods ; Genome, Mitochondrial ; Genomics/methods ; Humans ; Magnetic Resonance Angiography ; Phenotype ; Radiography, Thoracic ; Reactive Oxygen Species/metabolism ; Exome Sequencing

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Skocz do pozycji: 2.

Tytuł:: Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.
Autorzy:: Asiri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Aloyouni E; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Alyafee Y; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Al Tuwaijri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Alhamoudi KM; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Almuzzaini B; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Al Baz A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Alwadaani D; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Nashabat M; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Pokaż więcej
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Jun; Vol. 7 (6), pp. 956-964. Date of Electronic Publication: 2020 May 19.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Craniofacial Abnormalities/*genetics
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Language Development Disorders/*genetics
Adult ; Child, Preschool ; Consanguinity ; Guanine Nucleotide Exchange Factors ; Humans ; Male ; Mutation ; Pedigree ; Syndrome ; Whole Genome Sequencing

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