Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Alquait L"" wg kryterium: Autor


Wyświetlanie 1-17 z 17
Tytuł :
A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndrome.
Autorzy :
Al-Numair N; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre College of Medicine, Alfaisal University Department of Pathology and Laboratory Medicine, Centre of Excellence Thrombosis and Homeostasis, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Ramzan K
Alquait L
Alshehri M
Imtiaz F
Owaidah T
Pokaż więcej
Źródło :
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2021 Mar 01. Date of Electronic Publication: 2021 Mar 01.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Autorzy :
Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Saudi Arabia; College of Medicine, Al Faisal University, Riyadh, Saudi Arabia.
AlQuait L; Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia.
AlRasheed A; Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
AlHarbi S; Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
Albader AA; Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia.
AlMass R; Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia.
Albakheet A; Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia.
Alhumaidan A; Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia.
AlRasheed MM; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
Colak D; Department of Biostatistics and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia.
Kaya N; Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia. Electronic address: .
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Jul; Vol. 30 (7), pp. 611-615. Date of Electronic Publication: 2020 May 15.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
Raport
Tytuł :
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
Autorzy :
AlMuhaizea M; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
AlMass R; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
AlHargan A; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
AlBader A; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
Medico Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Howaidi J; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
Ihinger J; University of Minnesota Medical Center, Minneapolis, MN, 55455, USA.
Karachunski P; Department of Neurology, University of Minnesota, Minneapolis, MN, 55455, USA.
Begtrup A; GeneDx, Gaithersburg, MD, 20877, USA.
Segura Castell M; CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
Bauer P; CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
Bertoli-Avella A; CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
Kaya IH; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
AlSufayan J; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
AlQuait L; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
Chedrawi A; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
Arold ST; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France.
Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. .
Kaya N; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia. .
Pokaż więcej
Źródło :
Acta neuropathologica [Acta Neuropathol] 2020 Apr; Vol. 139 (4), pp. 791-794. Date of Electronic Publication: 2020 Jan 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Autorzy :
Aldosary M; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Al-Bakheet A; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Al-Dhalaan H; Department of Neuroscience, and King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Almass R; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Alsagob M; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Al-Younes B; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
AlQuait L; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Mustafa OM; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Bulbul M; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Rahbeeni Z; Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Alfadhel M; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Genetics Division, Department of Pediatrics, King Abdullah Specialized Children Hospital, Riyadh, Saudi Arabia.
Chedrawi A; Department of Neuroscience, and King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Al-Hassnan Z; Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
AlDosari M; Center for Pediatric Neurosciences, Cleveland Clinic, Cleveland, Ohio.
Al-Zaidan H; Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Al-Muhaizea MA; Department of Neuroscience, and King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
AlSayed MD; Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Salih MA; Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
AlShammari M; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Faiyaz-Ul-Haque M; Department of Pathology and King Khalid Hospital, King Saud University, Riyadh, Saudi Arabia.
Chishti MA; Department of Biochemistry, King Khalid Hospital, King Saud University, Riyadh, Saudi Arabia.
Al-Harazi O; Department of Biostatistics, Epidemiology, and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Odaib A; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Kaya N; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Colak D; Department of Biostatistics, Epidemiology, and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Pokaż więcej
Źródło :
Omics : a journal of integrative biology [OMICS] 2020 Mar; Vol. 24 (3), pp. 160-171. Date of Electronic Publication: 2020 Feb 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Mitochondrial*
Forkhead Transcription Factors/*genetics
Methyl-CpG-Binding Protein 2/*genetics
Nerve Tissue Proteins/*genetics
Protein-Serine-Threonine Kinases/*genetics
Rett Syndrome/*genetics
Case-Control Studies ; Child ; Child, Preschool ; DNA Copy Number Variations ; Female ; Forkhead Transcription Factors/metabolism ; Gene Expression Profiling ; Gene Expression Regulation ; Gene Ontology ; Gene Regulatory Networks ; Genome, Human ; Humans ; Male ; Methyl-CpG-Binding Protein 2/metabolism ; Mitochondria/metabolism ; Mitochondria/pathology ; Molecular Sequence Annotation ; Mutation ; Nerve Tissue Proteins/metabolism ; Protein-Serine-Threonine Kinases/metabolism ; Rett Syndrome/diagnosis ; Rett Syndrome/metabolism ; Rett Syndrome/physiopathology ; Signal Transduction ; Transcriptome
Czasopismo naukowe
Tytuł :
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Autorzy :
Al-Hassnan ZN; 1Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.; 7College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Albawardi W; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Almutairi F; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
AlMass R; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
AlBakheet A; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Mustafa OM; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
AlQuait L; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Shinwari ZMA; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Wakil S; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Salih MA; 3Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.
Al-Fayyadh M; 4Heart Center, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
Hassan SM; 3Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.
Aljoufan M; 4Heart Center, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
Al-Nakhli O; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Levy B; 5Department of Pathology and Cell Biology, Columbia University, New York, NY USA.
AlMaarik B; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Al-Hakami HA; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Alsagob M; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Colak D; 6Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
Kaya N; 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Pokaż więcej
Źródło :
Molecular cytogenetics [Mol Cytogenet] 2018 Jan 25; Vol. 11, pp. 9. Date of Electronic Publication: 2018 Jan 25 (Print Publication: 2018).
Typ publikacji :
Journal Article
Czasopismo naukowe
    Wyświetlanie 1-17 z 17

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies