Read more about the article Towards a European consensus for reporting incidental findings during clinical NGS testing.
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Towards a European consensus for reporting incidental findings during clinical NGS testing.

Abstract In 2013, the American College of Medical Genetics (ACMG) examined the issue of incidental findings in whole exome and whole genome sequencing, and introduced recommendations to search for, evaluate…

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Read more about the article Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum.
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Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum.

Abstract We report the clinical, biochemical, and molecular findings in a Cypriot family with minimally symptomatic McArdle disease. Myophosphorylase in muscle was assessed by histochemistry, quantitative spectrophotometry, and western blot…

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Read more about the article Novel Halomonas sp. B15 isolated from Larnaca Salt Lake in Cyprus that generates vanillin and vanillic acid from ferulic acid.
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Novel Halomonas sp. B15 isolated from Larnaca Salt Lake in Cyprus that generates vanillin and vanillic acid from ferulic acid.

Abstract Vanillin is a high value added product with many applications in the food, fragrance and pharmaceutical industries. A natural and low-cost method to produce vanillin is by microbial bioconversions…

Continue ReadingNovel Halomonas sp. B15 isolated from Larnaca Salt Lake in Cyprus that generates vanillin and vanillic acid from ferulic acid.
Read more about the article MuSK autoantibodies in myasthenia gravis detected by cell based assay–A multinational study.
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MuSK autoantibodies in myasthenia gravis detected by cell based assay–A multinational study.

Abstract Seronegative myasthenia gravis (MG) presents a serious gap in MG diagnosis and understanding. We applied a cell based assay (CBA) for the detection of muscle specific kinase (MuSK) antibodies…

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Read more about the article Genetic findings of Cypriot spinal muscular atrophy patients.
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Genetic findings of Cypriot spinal muscular atrophy patients.

Abstract Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disorder characterised commonly by proximal muscle weakness and wasting in the absence of sensory signs. Deletion or disruption of the…

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Read more about the article An incest case with three biological brothers as alleged fathers: Even 22 autosomal STR loci analysis would not suffice without the mother.
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An incest case with three biological brothers as alleged fathers: Even 22 autosomal STR loci analysis would not suffice without the mother.

Abstract Here, we report an incest paternity case involving three biological brothers as alleged fathers (AFs), their biological sister and her child that was investigated using the Investigator ESSplex Plus,…

Continue ReadingAn incest case with three biological brothers as alleged fathers: Even 22 autosomal STR loci analysis would not suffice without the mother.
Read more about the article In vivo monitoring of the inflammatory response in a stented mouse aorta model.
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In vivo monitoring of the inflammatory response in a stented mouse aorta model.

Abstract The popularity of vascular stents continues to increase for a variety of applications, including coronary, lower limb, renal, carotid, and neurovascular disorders. However, their clinical effectiveness is hindered by…

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Read more about the article 52 additional reference population samples for the 55 AISNP panel.
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52 additional reference population samples for the 55 AISNP panel.

Abstract Ancestry inference for a person using a panel of SNPs depends on the variation of frequencies of those SNPs around the world and the amount of reference data available…

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Read more about the article Dementia caregiver burden association with community participation aspect of social capital.
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Dementia caregiver burden association with community participation aspect of social capital.

Abstract This study explores dementia caregiver burden and depression in the context of social capital and investigates the relationship of caregivers' burden with the perceptions of social capital of a…

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Read more about the article Clinical and Laboratory Features of Six Cases of Candida and Dermatophyte Folliculitis and a Review of Published Studies.
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Clinical and Laboratory Features of Six Cases of Candida and Dermatophyte Folliculitis and a Review of Published Studies.

Abstract Although some studies have investigated the epidemiological characteristics of Malassezia folliculitis (MF), little is known about the clinical features and laboratory characteristics of folliculitis caused by other fungi. In…

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