Results 21 to 30 of about 1,645,811 (308)
Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs
eLife, 2023 Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in 'mutation intolerant' genes. We show how such observations can be interpreted in light of a model of mutation-selection balance and use the model to relate ...
Ipsita Agarwal +3 more
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Frontiers in Genetics, 2022 Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza +11 more
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Fabricated humans? Human genetics, ethics and the Christian wisdom tradition [PDF]
, 2005 This is a PDF version of an article published in Dialog© 2005. The definitive version is available at www.blackwell-synergy.com.This article discusses moral and ethical issues surrounding genetic screening and testing and argues that principles of ...
Deane-Drummond, Celia
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Quantitative genetics of disease traits [PDF]
, 2015 John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich,
Visscher, P. M., Wray, N. R.
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Frontiers in Cardiovascular Medicine, 2021 Congenital heart disease (CHD) is the most common type of birth defect, affecting ~1% of all live births. Malformations of the cardiac outflow tract (OFT) account for ~30% of all CHD and include a range of CHDs from bicuspid aortic valve (BAV) to ...
Adrianna Matos-Nieves +9 more
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Human and molecular genetics shed lights on fatty liver disease and diabetes conundrum
Endocrinology, Diabetes & Metabolism, 2020 The causal role of abdominal overweight/obesity, insulin resistance and type 2 diabetes (T2D) on the risk of fatty liver disease (FLD) has robustly been proven.
Federica Tavaglione +3 more
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Frontiers in Cellular and Infection Microbiology, 2022 Despite meritorious attempts, a S. aureus vaccine that prevents infection or mitigates severity has not yet achieved efficacy endpoints in prospective, randomized clinical trials. This experience underscores the complexity of host-S. aureus interactions,
Tania Wong Fok Lung +10 more
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Journal of Fungi, 2022 Tinea imbricata is a unique fungal skin disease that mostly affects indigenous populations in Southeast Asia, Oceania, and Central and South America. The control and management of this disease among these communities are challenging given their remote ...
Yi Xian Er +7 more
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Linking genetics with biology in disease research: an interview with Nick Hastie [PDF]
, 2012 Professor Nick Hastie is Director of the MRC Human Genetics Unit in Edinburgh, a centre originally famous for early studies of chromosome biology. He is also Director of the newly formed Institute of Genetics and Molecular Medicine, which includes the ...
Allan, Sarah, Hastie, Nick
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Folia Morphologica, 2023 BACKGROUND: The dural fold between anterior and middle clinoid processes on mineralisation leads to the formation of caroticoclinoid foramen (CCF). Different morphology of this foramen presents with different clinical features.
A. Priya +3 more
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