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Dysferlinopathies: Clinical and genetic variability

Clinical Genetics, 2022
Abstract Dysferlinopathies are a clinically heterogeneous group of diseases caused by mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is mostly expressed in muscle tissues and is localized in the sarcolemma, where it performs its main function of ...
Alisa, Ivanova   +2 more
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Genetic variability and transplantation

Current Opinion in Urology, 2003
The purpose of this review is to summarize recent advances within the area of genetic polymorphisms with a specific emphasis on renal transplantation, and to discuss the potential clinical applications.Due to recent advances in molecular techniques, there has been an abundance of publications describing genetic variability in molecules relevant to ...
Brad, Marder   +2 more
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Genetic variability in Lycopersicon species and their genetic relationships

Theoretical and Applied Genetics, 1993
Genetic diversity has to be described and measured in order to establish breeding strategies and manage genetic resources. It is also fundamental to develop a comparative intraspecific study before attempting to discuss and conclude any phylogenetic relationship.
M P, Bretó, M J, Asins, E A, Carbonell
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The Variability of Genetic Disease

New England Journal of Medicine, 2012
It is never boring to be a physician because patients are so different. Each patient has a story to tell, and few have disorders that match textbook descriptions. By the same token, we need to be careful when predicting the future for our patients, and finding the appropriate therapy is often a matter of trial and error as much as science and protocol.
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Genetic Variability and Artificial Insemination

Nature, 1951
IN Nature of November 11, S. L. Rabasa1 discusses the reduction in genetic variability which can take place in a population bred by artificial insemination. The problem he raises is not peculiar to populations bred in this way, but is a general one which must be faced in any population in which the parents of later generations are selected out of the ...
J M, RENDEL, A, ROBERTSON
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Genetics and variability in opioid response

European Journal of Pain, 2005
AbstractThe human genome project has revealed data on genomic variation which may influence the pharmacological responses. In pain therapy, the genetic background influencing the efficacy of opioid therapy is of special interest. Screening for variations in expression of drug metabolizing enzymes has been suggested as a potential tool for improving ...
Ulrike M, Stamer   +2 more
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Genetics of Variability of CHD Risk

International Journal of Epidemiology, 1989
Many genetic and environmental factors act in combination to determine inter-individual variability in risk factor traits for coronary artery disease (CAD). Geneticists have focused on the study of continuously distributed biological traits such as total plasma cholesterol.
C F, Sing, P P, Moll
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Social Identity and Genetic Variability

Journal of Biosocial Science, 1978
SummaryThe paper presents the results of five polymorphic systems in a sample of 999 individuals from Nottinghamshire. The results are classified by the socio-economic grouping of parents and self.The results show that social class differences for the genetic attributes exist and are almost linear when aggregated distances are computed.
R A, Cartwright   +2 more
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Variables in the outcome of genetic counseling

Social Biology, 1976
Abstract Genetic counseling is defined as a communication process which has as its goal the provision of information and support for the alleviation of human suffering. Review of the literature indicates that educational, reproductive, and psychological outcomes vary and that reproductive behavior is dependent upon stage in the life cycle, the mother's
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Genetic variability in endoparasitic helminths

Parasitology Today, 1987
Biochemical genetic studies have revealed high levels o f polymorphism and heterozygosity in natural populations of endoporasitic helminths. With few exceptions, these parasitic helminths appear just as genetically variable as free-living invertebrates.
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