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Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1941
Abstract: X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing.
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Keywords:
new variants;
rickets description;
seven new;
description seven ... See more keywords
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Published in 2020 at "Archives of biochemistry and biophysics"
DOI: 10.1016/j.abb.2020.108263
Abstract: AADC deficiency is a rare genetic disease caused by mutations in the gene of aromatic amino acid decarboxylase, the pyridoxal 5'-phosphate dependent enzyme responsible for the synthesis of dopamine and serotonin. Here, following a biochemical…
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Keywords:
variants aadc;
deficiency expand;
new variants;
deficiency ... See more keywords
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Published in 2022 at "iScience"
DOI: 10.1016/j.isci.2022.103939
Abstract: The emergence of SARS-CoV-2 variants necessitates rational assessment of their impact on the recognition and neutralization of the virus by the host cell. We present a comparative analysis of the interactions of Alpha, Beta, Gamma,…
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Keywords:
new variants;
sars cov;
impact new;
neutralization ... See more keywords
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Published in 2019 at "International Journal of Dermatology"
DOI: 10.1111/ijd.14509
Abstract: Psoriasis is a chronic, recurrent, inflammatory, and proliferative skin disease. Its etiology has not yet been fully assessed, but undoubtedly it is a multifaceted disease. The key role in its pathomechanism is played by genetic,…
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Keywords:
therapy;
variants psoriasis;
new variants;
psoriasis therapy ... See more keywords
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Published in 2021 at "PLoS ONE"
DOI: 10.1371/journal.pone.0248792
Abstract: Whole genome sequencing of viral specimens following molecular diagnosis is a powerful analytical tool of molecular epidemiology that can critically assist in resolving chains of transmission, identifying of new variants or assessing pathogen evolution and…
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Keywords:
epidemiology sars;
new variants;
epidemiology;
cyprus ... See more keywords
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Published in 2021 at "Genes"
DOI: 10.3390/genes12040565
Abstract: For 1 year now, the world is undergoing a coronavirus disease-2019 (COVID-19) pandemic due to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The most widely used method for COVID-19 diagnosis is the detection of…
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Keywords:
detection;
new variants;
evaluation;
qpcr assays ... See more keywords
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Published in 2022 at "Life"
DOI: 10.3390/life12020194
Abstract: The COVID-19 pandemic has had a significant global impact, with more than 280,000,000 people infected and 5,400,000 deaths. The use of personal protective equipment and the anti-SARS-CoV-2 vaccination campaigns have reduced infection and death rates…
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Keywords:
new variants;
sars cov;
world;
emergence sars ... See more keywords
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Published in 2022 at "Symmetry"
DOI: 10.3390/sym14122599
Abstract: Recently, there has been a strong push toward creating and expanding quadrature inequalities in quantum calculus. In order to investigate various avenues for quantum inquiry, a number of quantum extensions of midpoint estimations are studied.…
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Keywords:
new variants;
type inequalities;
midpoint type;
quantum midpoint ... See more keywords