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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
Published 2025-01-01“…A homozygous frameshift variant NM_000329.3:c.1067del (p.Asn356MetfsTer17) in RPE65 was identified by ES with the entire chromosome 1 proving to be paternal UPiD. Within 5 months after the molecular diagnosis, the patient was treated with subretinal voretigene neparvovec (VN) therapy and is being followed up for prognosis. …”
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Neo-traditionalism as a factor of neoconservative modernization: specificity of the evolution of power and control
Published 2019-03-01Subjects: Get full text
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Genetic selection for postweaning growth rate shows no relevant negative impact on reproductive performance in breeding rabbit does
Published 2025-01-01Subjects: Get full text
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(Deliberative) Democracy in the Times of the Anthropocene
Published 2025-01-01Subjects: Get full text
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Russian entrepreneurship in the formation of charitable activities: Yesterday, today, tomorrow
Published 2024-03-01Subjects: Get full text
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Nudging in the nursing home: A qualitative interpretive study
Published 2025-06-01Subjects: Get full text
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Embryonic heat conditioning induces paternal heredity of immunological cross- tolerance: coordinative role of CpG DNA methylation and miR-200a regulation
Published 2025-02-01“…In this study, we conducted an analysis of thermal manipulation during embryogenesis to demonstrate paternal heredity and investigate its transmission through sperm DNA methylation in coordination with miR-200a action.ResultFirst-generation embryos underwent in ovo heat conditioning (EHC), creating a cohort of embryonic EHC and control chicks. …”
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« Il te faut mener une vie régulière » : prescriptions et rôle du père durant la grossesse (1960-1962)
Published 2017-12-01Subjects: Get full text
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Gouvernance des politiques de relocalisation face au risque de montée du niveau de la mer
Published 2016-04-01Subjects: Get full text
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High genetic variation, low differentiation, and Pleistocene expansions of the migratory and endangered long-nosed tequila bat, Leptonycteris nivalis, inferred using both maternal and paternal genetic markers.
Published 2025-01-01“…We conducted population genetics and phylogeographic analyses to elucidate the genetic structure and demographic history of the species using two mitochondrial markers and a Y chromosome-associated gene, to describe both maternal and paternal lineages. We estimated high haplotypic diversity measures for the different markers (Dloop-Hd = 0.775; Cyt-b-Hd = 0.937; DBY -Hd = 0.946). …”
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Contribuţii privitoare la viaţa şi activitatea lui Ienăchiţă Văcărescu
Published 2013-12-01Subjects: Get full text
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Strategic selection of polliniser trees can improve fruit quality of lychee, a crop that exhibits mixed-mating
Published 2025-03-01Subjects: Get full text
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