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Items for "Phenotype"

Current and future prospects in haemostasis

Solving the human genome and new technical tools are nowadays rapidly increasing the knowledge of haemostasis...

Keywords: Phänotyp, Genotyp, Vitamin-K-Zyklus, Antikoagulanzien, Aptamere

01/2006 | Hämostaseologie, Schattauer

From Phenotype to Genotype: Issues in Navigating the Available Information Resources

OBJECTIVES: As part of an investigation of connecting health professionals and the lay public to both disease and genomic information, we assessed the availability and nature of the data from the Human Genome Project relating to human genetic diseases. METHODS: We focused on a set of single gene diseases selected from main topics in MEDLINEplus, the NLM's principal resource focused on consumers...

Keywords: Phenotype, genotype, databases (genetic), computa-tional navigation, information systems, Interoperability

01/2003 | Methods of Information in Medicine, Schattauer

Integration of Genomic Data in Electronic Health Records Opportunities and Dilemmas

Objectives: In this paper we give an overview about the challenge the postgenomic era poses on biomedical informaticists...

Keywords: Human genome, Phenotype, genotype, personal health record, Hospital Information Systems, Medical Informatics, bioinformatics

01/2005 | Methods of Information in Medicine, Schattauer

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3

Previous family studies revealed a large number of calpain 3 (CAPN3) mutations that cause recessive forms of limb girdle muscular dystrophy (LGMD2A) with selective atrophy of the proximal limb muscles...

Keywords: linkage, missense mutation, molecular model, mutation analysis, Phenotype, structure-activity relationship

01/2005 | Biological Chemistry, Walter de Gruyter

Application of leukocyte transcriptomes to assess systemic consequences of risk factors for cardiovascular disease

Prevention of cardiovascular disease (CVD) remains a major health issue in the Western world...

Keywords: cardiovascular risk factor, inflammation, Microarrays, monocyte, Phenotype

09/2007 | Clinical Chemical Laboratory Medicine, Walter de Gruyter

In vitro inhibition of fibrinolysis by apolipoprotein(a) and lipoprotein(a) is size- and concentration-dependent

Lipoprotein(a) (Lp(a)) is considered an independent risk factor for atherosclerotic heart and circulatory diseases...

Keywords: fibrinolysis, inhibition, lipoprotein(a), Phenotype, thrombosis

09/2004 | Clinical Chemical Laboratory Medicine, Walter de Gruyter

Morphological and genetic variation in Egregia menziesii over a latitudinal gradient

This study characterized morphological variation in the kelp, Egregia menziesii, over a large geographic scale...

Keywords: biogeography, Egregia, genetic divergence, internal transcribed spacer, kelp, latitude, morphology, Phenotype, selection, wave height

08/2007 | Botanica Marina, Walter de Gruyter

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