Search Results - "Alsayegh, Abeer"

Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations by Idris, Ahmed B., Al-Mamari, Watfa, Abdulrahim, Reem, Alsayegh, Abeer

“…This short commentary aims to shed light on the discrepancy in the epidemiological findings and underlying genetic architecture of Autism Spectrum Disorder…”
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Clinical and neurobehavioral phenotype in children with autism and intragenic copy number duplications in CNTN4: Case series report by Al-Mamari, Watfa, Idris, Ahmed B., Fadlallah, Najat, Jalees, Saquib, Al-Jabri, Muna, Al-Maawali, Al-Mundher, Alsayegh, Abeer

“…Copy Number Variation (CNV) of contactin genes (CNTNs) - CNTN3, CNTN4, CNTN5, and CNTN6 - have been associated with various neurodevelopmental disorders,…”
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Consanguinity: The innocent culprit in autism severity by Al-Mamari, Watfa, Idris, Ahmed B, Fadlallah, Najat, Jalees, Saquib, Al-Jabri, Muna, Al-Shehhi, Halima, Mohammed, Maha, Alsayegh, Abeer

“…Objective: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with genetic and environmental factors. Although consanguinity is a common practice…”
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Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study by 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

“…Purpose Early identification of inborn errors of immunity (IEIs) is crucial due to the significant risk of morbidity and mortality. This study aimed to…”
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Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene by Al-Marhoobi, Reem, Al-Musalhi, Musleh, Naseem, Shafiq-Ur-Rehman, Wali, Yasser, Alsayegh, Abeer, Al-Tamemi, Salem

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

“…This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied…”
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Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene by Al-Marhoobi, Reem, Al-Musalhi, Musleh, Naseem, Shafiq-Ur-Rehman, Wali, Yasser, Alsayegh, Abeer, Al-Tamemi, Salem

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