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STAT4, TRAF3IP2, IL10, and HCP5 Polymorphisms in Sjögren’s Syndrome: Association with Disease Susceptibility and Clinical Aspects
Published 2019-01-01“…A case-control association study and a phenotype-genotype correlation analysis were performed. A genetic risk profile was developed considering the risk alleles. …”
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A first study on sperm sexing in water buffalo through magnetic nanoparticles
Published 2023-11-01“… Gender pre-selection is a genetic tool of economic significance, as it permits animal breeders to produce sex- specific progeny, thereby increasing profitability and genetic gain in the livestock industry. …”
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3804
A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
Published 2025-02-01“…Materials and methods The family underwent a clinical assessment of intellectual development, which included precise clinical exome sequencing to identify causative genetic variants. The potential deleterious effects and pathogenicity of the variant were predicted using bioinformatics tools such as Mutation Taster, PROVEAN, and SIFT. …”
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3805
Application of Minimally Invasive Oral Swab Samples for qPCR-Based Sexing in Neognathae Birds
Published 2025-01-01“…Additionally, early determination of the sexes of birds is crucial for their breeders, especially considering that most companion birds do not display clear sexual characteristics. Molecular genetic sexing has been demonstrated to be the most reliable method for determining the sexes of monomorphic birds. …”
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3814
UV-induced reorganization of 3D genome mediates DNA damage response
Published 2025-02-01Get full text
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Familial Recurrence of Cerebral Palsy with Multiple Risk Factors
Published 2011-01-01“…Intrinsic and maternal risk factors should be investigated in all cases of cerebral palsy to properly counsel families on the risk of recurrence. Recent studies of genetic polymorphisms associated with cerebral palsy are considered with reference to our observations in these two families.…”
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3817
Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum
Published 2012-01-01“…Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. …”
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3818
High Resolution Comparative Genomic Hybridization Detects 7–8 Megabasepair Deletion in PCR Amplified DNA1
Published 2001-01-01Get full text
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NETINFERENCE: COMPUTER PROGRAMS FOR REVEALING NETWORK STRUCTURE AND DYNAMICS
Published 2015-01-01Get full text
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