الاستشارة الوراثية
التسجيلات التي قمت بإرسالها
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GENETIC CAUSES OF CARDIAC CHANNELOPATHIES IN QATAR: TOWARD RISK STRATIFICATION AND MANAGEMENT STRATEGIES OF DISEASE
(2024 , Professional Masters Project)Background: Cardiac channelopathies are inherited disorders caused by pathogenic variants in genes encoding cardiac ion channels, disrupting ion currents, and leading to heart arrhythmias without structural heart defects. ... -
QATAR NATIONAL EXPANDED METABOLIC NEWBORN SCREENING PROGRAM: INCIDENCE AND OUTCOMES
(2024 , Professional Masters Project)Background: Newborn screening (NBS) is an essential public health strategy that aims to detect and diagnose inborn errors of metabolism (IEMs) in infants shortly after birth, typically through a minimally invasive heel ... -
PRENATAL WHOLE EXOME SEQUENCING OF FETAL SONOGRAPHIC ABNORMALITIES IN QATAR: DIAGNOSTIC YIELD AND GENETIC FINDINGS
(2024 , Professional Masters Project)Background: Fetal sonographic abnormalities at birth is estimated to be 2-3% of the global prevalence and are responsible for approximately 17%-42% of all perinatal deaths. Prenatal karyotype (KT) and chromosomal microarray ... -
TRANSLATION AND ADAPTATION OF THE GENETIC COUNSELING OUTCOME SCALE (GCOS-24) FOR THE EVALUATION OF GENETIC COUNSELING SERVICES IN QATAR.
(2024 , Professional Masters Project)Background. The Genetic Counseling Outcome Scale (GCOS-24), introduced in the United Kingdom (UK) in 2011, is a theory-driven patient-reported outcome measure (PROM) developed for evaluating clinical genetics services. ... -
PARENTAL KNOWLEDGE AND ATTITUDES TOWARDS GENETIC COUNSELING AND CHILDHOOD GENETIC TESTING FOR CONGENITAL ANOMALIES IN QATAR
(2023 , Professional Masters Project)Background: Understanding parental baseline knowledge of the implications of genetic counseling and genetic testing may unveil educational gaps or circumstantial fear and reluctance towards this important component in the ... -
Exploring the Genetic Causes of Non-syndromic Retinal Dystrophies in Qatar
(2023 , Professional Masters Project)Background. Non-syndromic retinal dystrophies (RDs) are a set of degenerative retinal diseases that vary clinically and genetically. RDs comprise several overlapping disorders such as Leber congenital amaurosis (LCA) and ... -
NONSYNDROMIC HEARING LOSS IN QATAR: THE GENETIC BASIS AND THE DIAGNOSTIC YIELD OF GENETIC TESTING
(2022 , Professional Masters Project)Background: Hearing loss is the most predominant sensory defect worldwide with around 8% of cases occurring in children. Approximately 66% of childhood-onset hearing loss cases are attributed to genetic factors. The ... -
THE DIAGNOSTIC YIELD AND GENETIC CONTRIBUTION OF AUTISM SPECTRUM DISORDER CASES IN QATAR POPULATION
(2022 , Professional Masters Project)Autism spectrum disorder (ASD) is a group of clinically and genetically diverse neurodevelopmental conditions. The genetics of ASD has been extensively studied, but the literature on ASD in Qatar is limited. Our study aims ...
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