Read more about the article Turkish perspective of Jervell and Lange-Nielsen syndrome.
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Turkish perspective of Jervell and Lange-Nielsen syndrome.

Abstract

Continue ReadingTurkish perspective of Jervell and Lange-Nielsen syndrome.
Read more about the article EFNS review on the role of muscle biopsy in the investigation of myalgia.
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EFNS review on the role of muscle biopsy in the investigation of myalgia.

Abstract Myalgia, defined as any pain perceived in muscle, is very common in the general population and a frequent cause for referral to neurologists, rheumatologists and internists in general. It…

Continue ReadingEFNS review on the role of muscle biopsy in the investigation of myalgia.
Read more about the article Comment on "technical concerns on the clinical validation of the NIFTY test".
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Comment on "technical concerns on the clinical validation of the NIFTY test".

Abstract

Continue ReadingComment on "technical concerns on the clinical validation of the NIFTY test".
Read more about the article Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.
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Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.

Abstract The goal of this study is to evaluate the amount of free fetal DNA (ffDNA), total DNA, and 'fetal fraction' found in maternal plasma and whether these influence the…

Continue ReadingVariability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.
Read more about the article Reconstruction of the evolutionary dynamics of hepatitis C virus subtypes in Montenegro and the Balkan region.
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Reconstruction of the evolutionary dynamics of hepatitis C virus subtypes in Montenegro and the Balkan region.

Abstract More than 20 million hepatitis C virus (HCV) carriers live in the countries of the Eastern Mediterranean. We determined HCV genotype distribution among chronically infected patients in Montenegro and…

Continue ReadingReconstruction of the evolutionary dynamics of hepatitis C virus subtypes in Montenegro and the Balkan region.
Read more about the article High carrier frequency of 21-hydroxylase deficiency in Cyprus.
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High carrier frequency of 21-hydroxylase deficiency in Cyprus.

Abstract Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has…

Continue ReadingHigh carrier frequency of 21-hydroxylase deficiency in Cyprus.
Read more about the article A novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.
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A novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.

Abstract To assess whether three novel interventions, formulated based on a systems medicine therapeutic concept, reduced disease activity in patients with relapsing-remitting multiple sclerosis (MS) who were either treated or…

Continue ReadingA novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.
Read more about the article Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
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Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Abstract β-Thalassaemia is one of the most common autosomal recessive single-gene disorder worldwide, with a carrier frequency of 12% in Cyprus. Prenatal tests for at risk pregnancies use invasive methods…

Continue ReadingNext generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Read more about the article Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
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Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.

Abstract Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tier test in…

Continue ReadingImplementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
Read more about the article 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
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263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.

Abstract Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a…

Continue Reading263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.