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A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review
Published 2025-01-01“…Whole exome sequencing (WES) identified a de novo heterozygous frameshift mutation, c.2890_2893del (p.Ser964Valfs*26), in the SMC1A gene. …”
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Application of Novel Amino-Functionalized NZVI@SiO2 Nanoparticles to Enhance Anaerobic Granular Sludge Removal of 2,4,6-Trichlorophenol
Published 2015-01-01“…A novel amino-functionalized silica-coated nanoscale zerovalent iron (NZVI@SiO2-NH2) was successfully synthesized by using one-step liquid-phase method with the surface functionalization of nanoscale zerovalent iron (NZVI) to enhance degradation of chlorinated organic contaminants from anaerobic microbial system. …”
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INSTITUCIONALNI OKVIRI POLITIČKE DOMINACIJE
Published 2017-03-01Get full text
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Pre-service teachers’ experiences of schooling: Implications for preparation for inclusive education
Published 2022-08-01Subjects: Get full text
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The negative aspects of injury on motivation of sports and physical exercise practitioners
Published 2025-02-01Subjects: Get full text
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Scholarly communication, scholarly publication and the status of emerging formats
Published 2001-01-01Subjects: Get full text
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L’aménagement flexible de la classe : le point de vue d’enseignantes du primaire au Québec
Published 2021-03-01Subjects: Get full text
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Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye
Published 2025-01-01Subjects: Get full text
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Hu-lu-su-pian ameliorates hepatic steatosis by regulating CIDEA expression in AKT-driven MASLD mice
Published 2025-01-01Subjects: Get full text
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Mining the ocean floor vs mining the Moon: what can we learn from our past experiences?
Published 2025-02-01Subjects: Get full text
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On the Geological and Palaeontological Heritage of the Azores Archipelago and the Urgent need to Review the Geosites of the Azores UNESCO Geopark: A Comment on Lima & Meneses (2023), Geoconservation Research, 6: 114-127
Published 2023-12-01“…Furthermore, and over ten years since the successful application to UNESCO for the implementation of the Azores Geopark, we stress the urgent need to re-evaluate the list of geosites selected by the Azores Geopark team, a task that we suggest could be done involving the collaboration of an expert and multidisciplinary scientific team.…”
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Teletrabalho e os novos desafios da liderança nas relações laborais: o caso do Instituto Federal de Educação, Ciência e Tecnologia de Rondônia
Published 2024-10-01“… O presente estudo aborda os novos desafios nas relações laborais de líderes de equipes em teletrabalho, trazendo o caso concreto do Instituto Federal de Educação, Ciência e Tecnologia de Rondônia, uma instituição federal de ensino. …”
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