Browsing by Author "Saraiva, Luis R."
Now showing items 1-4 of 4
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Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping
( Multidisciplinary Digital Publishing Institute (MDPI) , 2025 , Article)Background/Objectives: Hypospadias, a common congenital anomaly in males, presents significant challenges in diagnosis, management, and long-term care. Despite its prevalence, research into the condition has been hampered ... -
Exploring ethnic disparities in hypospadias incidence: A meta-analysis of epidemiological studies
( Elsevier , 2025 , Article)IntroductionHypospadias is a common congenital condition, yet the etiology and risk factors, including ethnic disparities, are not fully understood. While some studies suggest that ethnicity may influence the incidence of ... -
Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar
( Multidisciplinary Digital Publishing Institute (MDPI) , 2023 , Article)The leptin–melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in ... -
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 ...
