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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema
Published 2024-09-01“…Abstract Background Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by recurrent edema and a potentially fatal risk. …”
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Global climate changes and the evolution of area suitability for marmosets of genus Callithrix
Published 2023-08-01Get full text
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The impact of glucocorticoid receptor transactivation on context-dependent cell migration dynamics
Published 2025-02-01Get full text
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Association of high γ′ fibrinogen levels with adverse events in patients with COVID-19
Published 2025-02-01Get full text
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Evaluation of insertion and deletion polymorphisms of Brazilian Odontoceti
Published 2023-07-01“… Brazilian Odontoceti strandings provide substantial information about distribution, health, and genetics of this suborder. Moreover, molecular identification is required and studies in this area have been developed to clarify their distribution and phylogeny, since morphological identification may be infeasible in some degraded samples. …”
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Microplastics: A threat to Fetoplacental unit and Reproductive systems
Published 2025-06-01Get full text
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Gestational diabetes induces autistic-like behaviors in offspring by disrupting the GABAergic system
Published 2025-02-01Get full text
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Phytochemical and pharmacological review of Erica Genus (L.) Ericaceae plants
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An emerging role for neutrophils in the pathogenesis of endometriosis
Published 2025-02-01Get full text
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Regulation of NK cell development, maturation, and antitumor responses by the nuclear receptor NR2F6
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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
Published 2025-04-01“…Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities. Here, we provide genetic and phenotypic information for two individuals harboring de novo variants at p.Arg225 and sharing a highly similar phenotype. …”
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