Results 41 to 50 of about 10,048,978 (405)
Genetics of human hydrocephalus [PDF]
Journal of Neurology, 2006 Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired.
Jun Zhang +2 more
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Genetics of human neural tube defects [PDF]
, 2009 Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating ...
A. J. Copp +131 more
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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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eLife, 2016 Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes.
Andrew T Timberlake +23 more
doaj +1 more source
Direct-to-consumer genetic testing: where and how does genetic counseling fit? [PDF]
, 2017 Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to ‘research’ results conferring increased risks.
Anna Middleton +8 more
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Genetics of human obesity [PDF]
Comptes Rendus. Biologies, 2005 The rapid development of new concepts and tools has led to a change in the way in which researchers carry out nutrition-related research. Obesity is determined by the interaction between predisposing genetic and environmental aspects, but at present the gene–gene and gene–environment interactions contributing to the development of this complex disease ...
openaire +4 more sources
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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Horizontes Antropológicos, 2012 As atividades oriundas de ações humanas, incluindo pesquisas científicas, são estruturadas sob contextos individuais e coletivos. A artigo de Kent e Santos considera isso num cenário específico, mas ao descreverem tal fato eles também dão margem a ações ...
Maria Cátira Bortolini
doaj +1 more source
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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Conflation of Short Identity-by-Descent Segments Bias Their Inferred Length Distribution
G3: Genes, Genomes, Genetics, 2016 Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to share an IBD segment if that segment is inherited from a recent shared common ancestor without intervening ...
Charleston W. K. Chiang +2 more
doaj +1 more source