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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
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Regulation of NK cell development, maturation, and antitumor responses by the nuclear receptor NR2F6
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Stem Cell Revolutions: An alliance for Parkinson’s disease driven by European Commission consortia
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Comment on: Multimorbidity, comorbidity, frailty, and venous thromboembolism
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CLN6‐related continuum phenotype caused by aberrant splicing
Published 2025-02-01“…Abstract Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. …”
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398
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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399
Prenatal Cytogenetic Findings in 13.466 Cases of High-Risk Pregnant Women in One Laboratory
Published 2013-12-01“…STUDY DESIGN: Between years 2001 and 2009, a large series of 13466 pregnant women with various high-risk factors were referred to our genetic laboratory for prenatal genetic diagnosis. 12.124 amniocentesis, 212 chorionic villus sampling (CVS), 173 percutaneous umbilical blood sampling (PUBS) samples and 809 fetal and placental tissue samples (from aborted or from stillbirth fetuses) were collected. …”
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400
The use of eDNA in the reconstruction of present and past polar vertebrates’ populations
Published 2023-07-01Get full text
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