Search Results - "Lupo, Viviana"
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Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
Published in Bone Reports (01-12-2023)“…gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases…”
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Journal Article -
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Forefront Users' Experience Evaluation by Employing Together Virtual Reality and Electroencephalography: A Case Study on Cognitive Effects of Scents
Published in Brain sciences (18-02-2021)“…Scents have the ability to affect peoples' mental states and task performance with to different extents. It has been widely demonstrated that the lemon scent,…”
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Journal Article -
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Fake-News Attitude Evaluation in Terms of Visual Attention and Personality Traits: A Preliminary Study for Mitigating the Cognitive Warfare
Published in Behavioral sciences (01-11-2024)“…Although the Internet grants access to a large amount of information, it is crucial to verify its reliability before relying on it. False information is a…”
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Journal Article -
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Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature
Published in American journal of medical genetics. Part A (01-04-2023)“…Multisystemic smooth muscle dysfunction syndrome (MSMDS, OMIM # 613834) is a rare autosomal dominant condition caused by pathogenetic variants of ACTA2 gene…”
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Journal Article -
5
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
Published in Bone reports (01-12-2023)“…COL2A1 gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic…”
Get full text
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