47 items found

Types: other Groups: Open Access Tags: 69999 Biological Sciences not elsewhere classified Genetics

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    Peripheral neuropathy in metachromatic leukodystrophy: Current status and fut...

    Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A....
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    The gradient test and its finite sample size properties in a conditional maxi...

    In asymptotic theory, the gradient test proposed by Terrell is a recent likelihood-based hypothesis testing approach which can be considered as an alternative to the...
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    Two subphenotypes of septic acute kidney injury are associated with different...

    Abstract Background The pathophysiology of septic acute kidney injury is inadequately understood. Recently, subphenotypes for...
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    Self-monitoring of health data by patients with a chronic disease: does disea...

    Background: There is a growing emphasis on self-monitoring applications that allow patients to measure their own physical health parameters. A prerequisite for achieving...
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    A global sensitivity analysis approach for morphogenesis models

    Abstract Background Morphogenesis is a developmental process in which cells organize into shapes and patterns. Complex, non-linear and multi-factorial models with images as...
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    Comparative and selection sweep analysis of CNV was associated to litter size...

    This study aims to identify the relative Copy number variation (CNV) associated with the litter size of Dazu black goats based on the unpublished CNV analytical results of our...
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    An inventory of collaborative medication reviews for older adults - evolution...

    Abstract Background Collaborative medication review (CMR) practices for older adults are evolving in many countries. Development has been under way in Finland for over a...
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    Surviving critical illness, what is next?: an expert consensus statement on p...

    Abstract Background The study objective was to obtain consensus on physical therapy (PT) in the rehabilitation of critical illness survivors after hospital discharge. Research...
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    Qualitative study exploring the phenomenon of multiple electronic prescribing...

    BACKGROUND: A previous census of electronic prescribing (EP) systems in England showed that more than half of hospitals with EP reported more than one EP system within the same...
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    Mobility assessment of a rural population in the Netherlands using GPS measur...

    Background: The home address is a common spatial proxy for exposure assessment in epidemiological studies but mobility may introduce exposure misclassification. Mobility can be...
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    Crowdsourced direct-to-consumer genomic analysis of a family quartet

    Abstract Background We describe the pioneering experience of a Spanish family pursuing the goal of understanding their own personal genetic data to the fullest possible extent...
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    PROX1 and β-catenin are prognostic markers in pancreatic ductal adenocarcinoma

    Abstract Background The Wnt/β-catenin pathway has a key role in regulating cellular processes and its aberrant signaling can lead...
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    Untapped potential of multicenter studies: a review of cardiovascular risk pr...

    Abstract Background Clinical prediction models are often constructed using multicenter databases. Such a data structure poses additional challenges for statistical analysis...
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    Abdominal obesity increases metabolic risk factors in non-obese adults: a Hun...

    Abstract Background The prevalence of abdominal obesity is increasing worldwide. Adults with abdominal obesity have been reported to have increased risk of cardiometabolic...
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    A combined epigenome- and transcriptome-wide association study of the oral ma...

    Abstract Background The oral mucosa has an important role in maintaining barrier integrity at the gateway to the gastrointestinal and respiratory tracts. Smoking is a strong...
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    The effects of long-term daily folic acid and vitamin B12 supplementation on ...

    Abstract Background Folate and its synthetic form folic acid function as donor of one-carbon units and have been, together with other B-vitamins, implicated in programming of...
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    National policies for the promotion of physical activity and healthy nutritio...

    Abstract Background Health policy papers disseminate recommendations and guidelines for the development and implementation of...
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    Evaluation of whole exome sequencing as an alternative to BeadChip and whole ...

    Abstract Background Understanding the underlying genetic structure of human populations is of fundamental interest to both biological and social sciences. Advances in...
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    Reduced endogenous secretory RAGE in blood and bronchoalveolar lavage fluid i...

    Abstract Background The endogenous secretory receptor for advanced glycation end products (esRAGE) is a soluble isoform produced by alternative splicing of the RAGE gene. The...
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    Health care personnel’s perception of guideline implementation for musculoske...

    Abstract Background The increasing complexity and variability in radiology have significantly fueled the need for guidelines. There are many methods for disseminating and...