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   Articles with "previously unreported" as a keyword



Discovery of Previously Unreported Per- and Polyfluoroalkyl Substances (PFAS) in Pooled Australian Human Serum Using Nontarget Analysis.

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recommendations! Published in 2025 at "Environmental science & technology"

DOI: 10.1021/acs.est.5c04623

Abstract: Humans may be exposed to thousands of per- and polyfluoroalkyl substances (PFAS), yet only a small fraction of these are regularly monitored, potentially underestimating the associated risks. This study employed high-resolution mass spectrometry (HRMS)-based nontarget… read more here.

Keywords: serum; substances pfas; per polyfluoroalkyl; nontarget analysis ... See more keywords

Successful Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 Variant

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recommendations! Published in 2025 at "Neuropediatrics"

DOI: 10.1055/a-2668-4602

Abstract: Abstract Disease-causing variants in KCNMA1 are associated with a spectrum of epilepsy and/or movement disorders, often with additional developmental issues or intellectual impairment. Monoallelic gain-of-function variants often lead to paroxysmal nonkinesigenic dyskinesia (PNKD). While the… read more here.

Keywords: treatment; variant; behavioral arrests; lisdexamfetamine ... See more keywords

Updated mutational spectrum and genotype–phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants

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recommendations! Published in 2024 at "Experimental Dermatology"

DOI: 10.1111/exd.15072

Abstract: Autosomal recessive congenital ichthyoses (ARCI) is a genetically heterogeneous condition that can be caused by pathogenic variants in at least 12 genes, including ABCA12. ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI)… read more here.

Keywords: ichthyosis; genotype phenotype; previously unreported; pathogenic variants ... See more keywords

Granuloma Faciale‐Like Lesion of the Palate: A Previously Unreported Entity

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recommendations! Published in 2024 at "Oral Diseases"

DOI: 10.1111/odi.15180

Abstract: Granuloma faciale (GF) is a rare, benign, inflammatory skin disease, usually presenting as isolated, reddish-brown to violaceous asymptomatic papules, nodules or plaques that are soft, smooth, and well-circumscribed, often showing follicular accentuation and telangiectasia read more here.

Keywords: like lesion; palate previously; granuloma faciale; previously unreported ... See more keywords

Previously unreported variant of the rectus femoris muscle: case report.

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recommendations! Published in 2022 at "Folia morphologica"

DOI: 10.5603/fm.a2022.0010

Abstract: Although uncommon, variant muscular variations can occur related to the quadriceps femoris. Such variations might be encountered in the clinical setting so these should be documented. Here, we report three additional heads related to the… read more here.

Keywords: femoris muscle; unreported variant; report; rectus femoris ... See more keywords