Browsing by Author "Okashah, Sarah"
Now showing items 1-6 of 6
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The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
( Springer Nature , 2024 , Article)Hearing loss is the most predominant sensory defect occurring in pediatrics, of which, 66% cases are attributed to genetic factors. The prevalence of hereditary hearing loss increases in consanguineous populations, and the ... -
Genetic epidemiology of male infertility (MI) in Arabs: a systematic review
( CSIRO , 2022 , Article Review)Although Male Infertility (MI) in Arabs is fairly common, there is a dearth in published reports of genetic epidemiology of MI among Arabs. This study aimed to review the existing literature reporting the variants that are ... -
Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
( Taylor and Francis , 2021 , Article)Primary congenital glaucoma (PCG) is a rare glaucoma type that develops in early infantile period and contributes to an elevated pressure on ocular cavity. Variants in gene are the most encountered in PCG cases. The ... -
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry
( Multidisciplinary Digital Publishing Institute (MDPI) , 2022 , Article)Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal ... -
Involvement of Essential Signaling Cascades and Analysis of Gene Networks in Diabesity
( MDPI , 2020 , Article)(1) Aims: Diabesity, defined as diabetes occurring in the context of obesity, is a serious health problem that is associated with an increased risk of premature heart attack, stroke, and death. To date, a key challenge has ... -
Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review
( BioMed Central Ltd , 2025 , Article)Background Maple syrup urine disease (MSUD) is a hereditary metabolic disorder caused by a deficiency in the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. The Middle East and North Africa, and Türkiye ...
