Genetic heterogeneity in cataracts
Padma T, Murthy J, Reddy P
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Heterogeneity in Genetic Conditions [PDF]
The use of the term genetic heterogeneity in connection with type 2 neurofibromatosis in this edition [1] reflects the increasing clinical importance of precise genetic diagnosis. At its simplest genetic heterogeneity implies clinical similarity produced by different genes.
Evans, D., Harris, R.
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Genetic Heterogeneity of Cebocephaly [PDF]
Three infants with cebocephaly with entirely different aetiologies are described: one possibly representing the effect of a single mutant gene, one with apparent E trisomy, and one with D trisomy. In comparison with other reported patients, it is likely that infants with cebocephaly and no associated chromosomal abnormality have few, if any ...
L B, Holmes, S, Driscoll, L, Atkins
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Individual Genetic Heterogeneity
Genetic variation has been widely covered in literature, however, not from the perspective of an individual in any species. Here, a synthesis of genetic concepts and variations relevant for individual genetic constitution is provided. All the different levels of genetic information and variation are covered, ranging from whether an organism is unmixed ...
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An overview of the current genetic and phenotypical selection strategies to reduce the prevalence of feline hypertrophic cardiomyopathy = Een overzicht van de huidige genetische en fenotypische selectiestrategieën tegen hypertrofe cardiomyopathie bij de kat [PDF]
Hypertrophic cardiomyopathy (HCM) is a common and potentially lethal heart disease in cats. To reduce its prevalence, breeding cats are frequently screened on the basis of their phenotype or genotype.
Broeckx, Bart +3 more
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Intrapatient genomic divergence across multiple primary tumors in young Korean patients [PDF]
Purpose Multiple primary tumors arising in the same individual pose challenges for precision oncology, particularly in the context of hereditary cancer syndromes such as Lynch syndrome.
Yoon Young Choi
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Benefits of host genetic diversity for resistance to infection depend on parasite diversity [PDF]
Host populations with high genetic diversity are predicted to have lower levels of infection prevalence. This theory assumes that host genetic diversity results in variation in susceptibility and that parasites exhibit variation in infectivity. Empirical
Ebert, D., Ganz, H.
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Current status of accelerated corneal cross-linking
Corneal cross-linking with riboflavin is a technique to stabilize or reduce corneal ectasia, in diseases such as keratoconus and post-laser-assisted in situ keratomileusis (LASIK) ectasia.
Michael Mrochen
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Considering Intra-individual Genetic Heterogeneity to Understand Biodiversity [PDF]
In this chapter, I am concerned with the concept of Intra-individual Genetic Hetereogeneity (IGH) and its potential influence on biodiversity estimates. Definitions of biological individuality are often indirectly dependent on genetic sampling -and vice ...
A Cárdenas-Flores +69 more
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ForestPMPlot: A Flexible Tool for Visualizing Heterogeneity Between Studies in Meta-analysis. [PDF]
Meta-analysis has become a popular tool for genetic association studies to combine different genetic studies. A key challenge in meta-analysis is heterogeneity, or the differences in effect sizes between studies.
Eskin, Eleazar +5 more
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