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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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The use of eDNA in the reconstruction of present and past polar vertebrates’ populations
Published 2023-07-01Get full text
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A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
Published 2025-02-01“…This study highlights the importance of considering semi-dominant inheritance models for dystrophic epidermolysis bullosa and other Mendelian diseases with an autosomal recessive mode of inheritance, as it can significantly impact diagnosis and genetic counseling.…”
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285
SPAGRM: effectively controlling for sample relatedness in large-scale genome-wide association studies of longitudinal traits
Published 2025-02-01“…A common strategy is to incorporate a random effect related to genetic relatedness matrix (GRM) into regression models. …”
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Oversized cells activate global proteasome-mediated protein degradation to maintain cell size homeostasis
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Insulin autoimmune syndrome in a 3-year-old boy: the youngest to date in China and a narrow review
Published 2025-02-01Get full text
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Developing mRNA lipid nanoparticle vaccine effective for cryptococcosis in a murine model
Published 2025-02-01Get full text
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Magnetic susceptibility components reveal different aspects of neurodegeneration in alpha-synucleinopathies
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Flowering characteristics and breeding system of Deutzia parviflora
Published 2025-01-01Get full text
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Site-selective dimethylation of flavonoids using fusion flavonoid O-methyltransferases
Published 2025-02-01Get full text
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