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    Tytuł:
    Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
    Autorzy:
    Abdi M; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Aliyev E; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
    Kohailan M; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Aamer W; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Syed N; Genomics Data Science Core, Sidra Medicine, Doha, Qatar.
    Shaath R; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Gandhi GD; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
    Howe J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
    Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
    Geng M; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
    Whitney J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
    Syed A; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Lakshmi J; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Hussein S; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Albashir N; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Hussein A; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Poggiolini I; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Elhag SF; Department of Genetics, Sidra Medicine, Doha, Qatar.; Hamad Medical Corporation, Doha, Qatar.
    Palaniswamy S; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Kambouris M; Pathology and Laboratory Medicine Department, Genetics Division, Sidra Medicine, Doha, Qatar.
    de Fatima Janjua M; Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Tahir MOE; Hamad Medical Corporation, Doha, Qatar.
    Nazeer A; Department of Psychiatry, Sidra Medicine, Doha, Qatar.; Weill Cornell Medicine, Doha, Qatar.
    Shahwar D; Department of Psychiatry, Sidra Medicine, Doha, Qatar.; Weill Cornell Medicine, Doha, Qatar.
    Azeem MW; Department of Psychiatry, Sidra Medicine, Doha, Qatar.; Weill Cornell Medicine, Doha, Qatar.
    Mokrab Y; Department of Genetics, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medicine, Doha, Qatar.; Qatar University, Doha, Qatar.
    Aati NA; Hamad Medical Corporation, Doha, Qatar.
    Akil A; Department of Genetics, Sidra Medicine, Doha, Qatar.
    Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON, Canada.
    Kamal M; Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Fakhro KA; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. .; Department of Genetics, Sidra Medicine, Doha, Qatar. .; Department of Genetic Medicine, Weill Cornell Medicine, Doha, Qatar. .
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    Źródło:
    Genome medicine [Genome Med] 2023 Oct 07; Vol. 15 (1), pp. 81. Date of Electronic Publication: 2023 Oct 07.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Autism Spectrum Disorder*/epidemiology
    Autism Spectrum Disorder*/genetics
    Child ; Humans ; Qatar/epidemiology ; Genome ; DNA Copy Number Variations ; Genomics ; DNA, Mitochondrial ; Genetic Predisposition to Disease
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
    Autorzy:
    Gandhi GD; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.; Human Genetics Department, Sidra Medicine, Doha, Qatar.
    Aamer W; Human Genetics Department, Sidra Medicine, Doha, Qatar.
    Krishnamoorthy N; Human Genetics Department, Sidra Medicine, Doha, Qatar.
    Syed N; Bioinformatics, Genomic Data Science Core, Sidra Medicine, Doha, Qatar.
    Aliyev E; Human Genetics Department, Sidra Medicine, Doha, Qatar.
    Al-Maraghi A; Human Genetics Department, Sidra Medicine, Doha, Qatar.
    Kohailan M; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.; Human Genetics Department, Sidra Medicine, Doha, Qatar.
    Alenbawi J; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.
    Elanbari M; Clinical Research Centre, Sidra Medicine, Doha, Qatar.
    Mifsud B; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.
    Mokrab Y; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.; Laboratory of Medical and Population Genomics, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medicine, Education City, Qatar.
    Abi Khalil C; Department of Genetic Medicine, Weill Cornell Medicine, Education City, Qatar.; Joan and Sanford I. Weill Department of Medicine, Weill Cornell Medicine, New York, US.
    Fakhro KA; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar. .; Human Genetics Department, Sidra Medicine, Doha, Qatar. .; Department of Genetic Medicine, Weill Cornell Medicine, Education City, Qatar. .
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    Corporate Authors:
    Qatar Genome Program Research Consortium (QGPRC)
    Źródło:
    Journal of translational medicine [J Transl Med] 2022 Nov 03; Vol. 20 (1), pp. 502. Date of Electronic Publication: 2022 Nov 03.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Proprotein Convertase 9*/genetics
    Hyperlipoproteinemia Type II*/complications
    Adult ; Humans ; Biological Specimen Banks ; Cholesterol, LDL ; Phenotype ; Receptors, LDL ; Mutation
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Sib-pair subgroup familial type 1 diabetes mellitus in children in the state of Qatar.
    Autorzy:
    Afyouni H; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Haris B; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Syed N; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Ahmed I; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Hamed N; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Abdel-Karim T; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Mohammed S; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Khalifa A; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Al-Maadheed M; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Zyoud M; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Elawwa A; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Al-Khalaf F; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Petrovski G; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
    Hussain K; Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar.
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    Źródło:
    PloS one [PLoS One] 2022 Jul 08; Vol. 17 (7), pp. e0271182. Date of Electronic Publication: 2022 Jul 08 (Print Publication: 2022).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Diabetes Mellitus, Type 1*/epidemiology
    Diabetes Mellitus, Type 1*/genetics
    Adolescent ; Autoantibodies ; Child ; Child, Preschool ; HLA-DRB3 Chains ; Humans ; Qatar/epidemiology ; Siblings
    SCR Disease Name:
    Mason-Type Diabetes
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Maturity-onset diabetes of the young (MODY) due to PDX1 mutation in a sib-pair diabetes family from Qatar.
    Autorzy:
    Haris B; Department of Paediatric Endocrinology Sidra Medicine Doha Qatar.
    Mohammed I; Department of Paediatric Endocrinology Sidra Medicine Doha Qatar.
    Syed N; Department of Translational Medicine Sidra Medicine Doha Qatar.
    Fakhro K; Department of Human Genetics Sidra Medicine Doha Qatar.; Department of Genetic Medicine Weill Cornell Medical College Doha Qatar.
    Hussain K; Department of Paediatric Endocrinology Sidra Medicine Doha Qatar.
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    Źródło:
    Clinical case reports [Clin Case Rep] 2021 Dec 11; Vol. 9 (12), pp. e05141. Date of Electronic Publication: 2021 Dec 11 (Print Publication: 2021).
    Typ publikacji:
    Case Reports
    Raport
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus among children in Qatar.
    Autorzy:
    Haris B; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Ahmed I; Translational Research, Sidra Medicine, Doha, Qatar.
    Syed N; Translational Research, Sidra Medicine, Doha, Qatar.
    Almabrazi H; Translational Research, Sidra Medicine, Doha, Qatar.
    Saraswathi S; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Al-Khawaga S; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Saeed A; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Mundekkadan S; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Mohammed I; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Sharari S; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Hawari I; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Hamed N; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Afyouni H; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Abdel-Karim T; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Mohammed S; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Khalifa A; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Al-Maadheed M; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Zyoud M; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Shamekh A; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Elawwa A; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Karim MY; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Al-Khalaf F; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Tatari-Calderone Z; Translational Research, Sidra Medicine, Doha, Qatar.
    Petrovski G; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.
    Hussain K; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Weill Cornell Medicine-Qatar, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar. .
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    Źródło:
    Scientific reports [Sci Rep] 2021 Sep 23; Vol. 11 (1), pp. 18887. Date of Electronic Publication: 2021 Sep 23.
    Typ publikacji:
    Journal Article; Observational Study; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Diabetes Mellitus, Type 1*/blood
    Diabetes Mellitus, Type 1*/genetics
    Diabetes Mellitus, Type 1*/immunology
    Genetic Predisposition to Disease*
    Autoantibodies/*blood
    Histocompatibility Antigens/*genetics
    Adolescent ; Alleles ; Autoantibodies/immunology ; Child ; Child, Preschool ; Female ; Haplotypes ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Prevalence ; Qatar/epidemiology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
    Autorzy:
    Al-Shafai KN; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Sidra Research Department, Sidra Medicine, Doha, Qatar.
    Al-Hashemi M; The Heart Hospital, Hamad Medical Corporation, Doha, Qatar.
    Manickam C; Sidra Research Department, Sidra Medicine, Doha, Qatar.
    Musa R; The Heart Hospital, Hamad Medical Corporation, Doha, Qatar.
    Selvaraj S; Sidra Research Department, Sidra Medicine, Doha, Qatar.
    Syed N; Sidra Research Department, Sidra Medicine, Doha, Qatar.
    Vempalli F; Sidra Research Department, Sidra Medicine, Doha, Qatar.
    Ali M; The Heart Hospital, Hamad Medical Corporation, Doha, Qatar.
    Yacoub M; National Heart and Lung Institute, Imperial College London, London, UK.
    Estivill X; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Sidra Research Department, Sidra Medicine, Doha, Qatar.; Quantitative Genomics Laboratories (qGenomics, Barcelona, Spain.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Jul; Vol. 9 (7), pp. e1709. Date of Electronic Publication: 2021 Jun 17.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Gene Frequency*
    Cardiomyopathy, Dilated/*genetics
    Cardiomyopathy, Hypertrophic/*genetics
    Connectin/*genetics
    Aged ; Arabs/genetics ; Female ; Humans ; Male ; Middle Aged
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Genetic and Neuroimaging Approaches to Understanding Post-Traumatic Stress Disorder.
    Autorzy:
    Nisar S; Functional and Molecular Imaging Department, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Bhat AA; Functional and Molecular Imaging Department, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Hashem S; Functional and Molecular Imaging Department, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Syed N; Functional and Molecular Imaging Department, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Yadav SK; Functional and Molecular Imaging Department, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Uddin S; Translational Research Institute, Hamad Medical Corporation, Doha 3050, Qatar.
    Fakhro K; Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.; Department of Genetic Medicine, Weill Cornell Medical College, Doha 24144, Qatar.
    Bagga P; Center for Magnetic Resonance and Optical Imaging, Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Thompson P; Imaging Genetics Center, Stevens Institute for Neuroimaging & Informatics, Keck USC School of Medicine, Los Angeles, CA 90033, USA.
    Reddy R; Center for Magnetic Resonance and Optical Imaging, Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Frenneaux MP; Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar.
    Haris M; Functional and Molecular Imaging Department, Research Branch, Sidra Medicine, Doha 26999, Qatar.; Laboratory Animal Research Center, Qatar University, Doha 2713, Qatar.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2020 Jun 24; Vol. 21 (12). Date of Electronic Publication: 2020 Jun 24.
    Typ publikacji:
    Journal Article; Review
    MeSH Terms:
    Gene Regulatory Networks*
    Genetic Markers*
    Genome-Wide Association Study*
    Neuroimaging/*methods
    Stress Disorders, Post-Traumatic/*pathology
    Animals ; Humans ; Stress Disorders, Post-Traumatic/diagnostic imaging ; Stress Disorders, Post-Traumatic/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Claudin-1, A Double-Edged Sword in Cancer.
    Autorzy:
    Bhat AA; Division of Translational Medicine, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Syed N; Division of Translational Medicine, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Therachiyil L; Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar.; Department of Pharmaceutical Sciences, College of Pharmacy, QU Health, Qatar University, Doha 2713, Qatar.
    Nisar S; Division of Translational Medicine, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Hashem S; Division of Translational Medicine, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Macha MA; Department of Biotechnology, Central University of Kashmir, Ganderbal, Jammu and Kashmir 191201, India.; Department of Biochemistry and Molecular Biology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
    Yadav SK; Division of Translational Medicine, Research Branch, Sidra Medicine, Doha 26999, Qatar.
    Krishnankutty R; Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar.
    Muralitharan S; Laboratory Animal Research Center, Qatar University, Doha 2713, Qatar.
    Al-Naemi H; Laboratory Animal Research Center, Qatar University, Doha 2713, Qatar.
    Bagga P; Center for Magnetic Resonance and Optical Imaging, Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
    Reddy R; Center for Magnetic Resonance and Optical Imaging, Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
    Dhawan P; Department of Biochemistry and Molecular Biology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
    Akobeng A; Department of Pediatric Gastroenterology, Sidra Medicine, Doha 26999, Qatar.
    Uddin S; Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar.
    Frenneaux MP; Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar.
    El-Rifai W; Department of Surgery, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
    Haris M; Division of Translational Medicine, Research Branch, Sidra Medicine, Doha 26999, Qatar.; Laboratory Animal Research Center, Qatar University, Doha 2713, Qatar.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2020 Jan 15; Vol. 21 (2). Date of Electronic Publication: 2020 Jan 15.
    Typ publikacji:
    Journal Article; Review
    MeSH Terms:
    Carcinogenesis/*genetics
    Claudin-1/*genetics
    Epithelial Cells/*metabolism
    Neoplasms/*genetics
    Tight Junctions/*genetics
    Tumor Suppressor Proteins/*genetics
    Cell Proliferation/genetics ; Claudin-1/metabolism ; Gene Expression Regulation, Neoplastic ; Humans ; Neoplasms/metabolism ; Survival Analysis ; Tight Junctions/metabolism ; Tumor Suppressor Proteins/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.
    Autorzy:
    Al-Khawaga S; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.; Diabetes Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.
    Mohammed I; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
    Saraswathi S; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
    Haris B; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
    Hasnah R; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
    Saeed A; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
    Almabrazi H; Biomedical Informatics Division, Sidra Medicine, Doha, Qatar.
    Syed N; Biomedical Informatics Division, Sidra Medicine, Doha, Qatar.
    Jithesh P; Biomedical Informatics Division, Sidra Medicine, Doha, Qatar.
    El Awwa A; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.; Faculty of medicine, Alexandria University, Alexandria, Egypt.
    Khalifa A; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
    AlKhalaf F; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
    Petrovski G; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
    Abdelalim EM; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.; Diabetes Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.
    Hussain K; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Oct; Vol. 7 (10), pp. e00753. Date of Electronic Publication: 2019 Aug 23.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Diabetes Mellitus/*diagnosis
    Blood Glucose/analysis ; Diabetes Mellitus/epidemiology ; Diabetes Mellitus/genetics ; Diabetes Mellitus, Type 1/diagnosis ; Diabetes Mellitus, Type 1/genetics ; Enhancer Elements, Genetic ; Epiphyses/abnormalities ; Fanconi Syndrome/diagnosis ; Fanconi Syndrome/genetics ; Female ; Gene Deletion ; Germinal Center Kinases/genetics ; Glucose Transporter Type 2/genetics ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/genetics ; Pedigree ; Phenotype ; Qatar ; Transcription Factors/genetics ; Whole Genome Sequencing
    SCR Disease Name:
    Diabetes Mellitus, Permanent Neonatal; Wolcott-Rallison syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Genome-wide Regulatory Roles of the C2H2-type Zinc Finger Protein ZNF764 on the Glucocorticoid Receptor.
    Autorzy:
    Fadda A; Division of Translational Medicine, Sidra Medical and Research Center, Doha 26999, Qatar.
    Syed N; Division of Biomedical Informatics, Sidra Medical and Research Center, Doha 26999, Qatar.
    Mackeh R; Division of Translational Medicine, Sidra Medical and Research Center, Doha 26999, Qatar.
    Papadopoulou A; Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
    Suzuki S; Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Pediatrics, Asahikawa Medical University, Asahikawa 078-8510, Japan.
    Jithesh PV; Division of Biomedical Informatics, Sidra Medical and Research Center, Doha 26999, Qatar.
    Kino T; Division of Translational Medicine, Sidra Medical and Research Center, Doha 26999, Qatar.; Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
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    Źródło:
    Scientific reports [Sci Rep] 2017 Jan 31; Vol. 7, pp. 41598. Date of Electronic Publication: 2017 Jan 31.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Gene Expression Regulation*
    Genome-Wide Association Study*
    Zinc Fingers*/genetics
    Receptors, Glucocorticoid/*metabolism
    Binding Sites ; Dexamethasone/pharmacology ; Glucocorticoids/pharmacology ; HeLa Cells ; Humans ; Nucleotide Motifs ; Position-Specific Scoring Matrices ; Protein Binding ; Protein Interaction Domains and Motifs ; Regulatory Sequences, Nucleic Acid ; Signal Transduction/drug effects ; Transcription Initiation Site ; Transcription, Genetic
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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