Výsledky vyhledávání - "Abeer AlSayegh"

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study

Autor: Salem Al-Tamemi, Shoaib Al-Zadjali, Zandre Bruwer, Shafiq-Ur-Rehman Naseem, Nabila Al-Siyabi, Mohammed ALRawahi, Khalsa Alkharusi, Khalid Al-Thihli, Fathiya Al-Murshedi, Abeer AlSayegh, Almundher Al-Maawali, David Dennison

Publikováno v: Journal of clinical immunology.

Early identification of inborn errors of immunity (IEIs) is crucial due to the significant risk of morbidity and mortality. This study aimed to describe the genetic causes, clinical features, and survival rate of IEIs in Omani patients.A prospective

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95f2c953298b61cdd542cc1b6a5bef1b
https://pubmed.ncbi.nlm.nih.gov/36324046

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Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations

Autor: Ahmed B. Idris, Watfa Al-Mamari, Reem Abdulrahim, Abeer Alsayegh

Publikováno v: Research in Autism Spectrum Disorders. 93:101944

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::60c525438f99373ceba1e9baf353829c
https://doi.org/10.1016/j.rasd.2022.101944

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Akademický článek

Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene.

Autor: Al-Marhoobi, Reem, Al-Musalhi, Musleh, Naseem, Shafiq-Ur-Rehman, Wali, Yasser, Alsayegh, Abeer, Al-Tamemi, Salem

Publikováno v: Journal of Pediatric Hematology/Oncology; May2020, Vol. 42 Issue 4, p333-335, 3p

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Akademický článek

Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.

Autor: Al-Mamari, Watfa, Idris, Ahmed B., Al-Thihli, Khalid, Abdulrahim, Reem, Jalees, Saquib, Al-Jabri, Muna, Gabr, Ahlam, Al Murshedi, Fathiya, Al Kindy, Adila, Al-Hadabi, Intisar, Bruwer, Zandrè, Islam, M. Mazharul, Alsayegh, Abeer

Publikováno v: International Journal of Developmental Disabilities; Mar2023, Vol. 69 Issue 2, p190-200, 11p

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Akademický článek

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.

Autor: Al-Tamemi, Salem, Al-Zadjali, Shoaib, Bruwer, Zandre, Naseem, Shafiq-Ur-Rehman, Al-Siyabi, Nabila, ALRawahi, Mohammed, Alkharusi, Khalsa, Al-Thihli, Khalid, Al-Murshedi, Fathiya, AlSayegh, Abeer, Al-Maawali, Almundher, Dennison, David

Publikováno v: Journal of Clinical Immunology; Feb2023, Vol. 43 Issue 2, p452-465, 14p

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Akademický článek

Global Oncology Medical Diplomacy Working Group Inaugural Meeting: Defining Worldwide Barriers to Germline Genomics in Cancer Prevention and Management.

Autor: Abou-Alfa, Ghassan K., Norton, Larry

Publikováno v: Annals of Global Health; 2023, Vol. 89 Issue 1, p1-8, 8p

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Periodical

Findings from Sultan Qaboos University Broaden Understanding of Autism Spectrum Disorders (Clinical and Neurobehavioral Phenotype In Children With Autism and Intragenic Copy Number Duplications In Cntn4: Case Series Report).

Publikováno v: Mental Health Weekly Digest; 7/5/2024, p585-585, 1p

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Akademický článek

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.

Autor: Al-Mamari, Watfa¹, Al-Saegh, Abeer¹ abeer.alsayegh@gmail.com, Al-Kindy, Adila¹, Bruwer, Zandre¹, Al-Murshedi, Fathiya¹, Al-Thihli, Khalid¹

Publikováno v: Journal of Autism & Developmental Disorders. Aug2015, Vol. 45 Issue 8, p2323-2328. 6p. 1 Diagram, 1 Chart.

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