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السجلات المعروضة 1 -- 7 من 7
Exploring the Genetic Causes of Non-syndromic Retinal Dystrophies in Qatar
(Genetic Counseling, 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 ...
QATAR NATIONAL EXPANDED METABOLIC NEWBORN SCREENING PROGRAM: INCIDENCE AND OUTCOMES
(Genetic Counseling, 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 ...
GENETIC CAUSES OF CARDIAC CHANNELOPATHIES IN QATAR: TOWARD RISK STRATIFICATION AND MANAGEMENT STRATEGIES OF DISEASE
(Genetic Counseling, 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. ...
TRANSLATION AND ADAPTATION OF THE GENETIC COUNSELING OUTCOME SCALE (GCOS-24) FOR THE EVALUATION OF GENETIC COUNSELING SERVICES IN QATAR.
(Genetic Counseling, 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. ...
PRENATAL WHOLE EXOME SEQUENCING OF FETAL SONOGRAPHIC ABNORMALITIES IN QATAR: DIAGNOSTIC YIELD AND GENETIC FINDINGS
(Genetic Counseling, 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 ...
PARENTAL KNOWLEDGE AND ATTITUDES TOWARDS GENETIC COUNSELING AND CHILDHOOD GENETIC TESTING FOR CONGENITAL ANOMALIES IN QATAR
(Genetic Counseling, 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 ...
NONSYNDROMIC HEARING LOSS IN QATAR: THE GENETIC BASIS AND THE DIAGNOSTIC YIELD OF GENETIC TESTING
(Genetic Counseling, 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 ...