Search Results - "Saito, Michael"
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Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A , POLR3B and POLR1C
Published in Journal of medical genetics (01-10-2023)“…RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction,…”
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Journal Article -
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Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy
Published in Neurology. Genetics (01-06-2020)“…To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with…”
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Journal Article -
3
A Mechanistic Role of Perceptual Comparisons in Undesired Memory Updating
Published 01-01-2024“…Comparing visual memories to new visual inputs is a functionally adaptive form of human cognition that is ubiquitous in the lab and real-world. These…”
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Dissertation -
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Herniation of cerebellar tonsils following supratentorial shunt placement
Published in Child's nervous system (01-08-1998)“…Acquired Chiari 1 following ventriculoperitoneal shunting is an extremely unusual event. We report the case of an 8-year-old boy who presented with clinical…”
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Conference Proceeding Journal Article -
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General Regulatory Patterns of Plant Mineral Nutrient Depletion as Revealed by serat Quadruple Mutants Disturbed in Cysteine Synthesis
Published in Molecular plant (01-03-2010)“…Sulfate is an essential macronutrient for plants. Plants have developed strategies to cope with sulfate deficiency, and other nutrient ion limitations…”
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Journal Article -
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Avaliação da viabilidade técnica do emprego de resina para tratamento da casca de queijos artesanais da Canastra
Published in Revista do Instituto de Laticínios Cândido Tostes (01-10-2009)“…O queijo "mineiro artesanal" é um produto tradicional elaborado em queijarias pequenas em propriedades rurais de agricultura familiar. O trabalho foi realizado…”
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Journal Article -
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Peroneal nerve entrapment in runners
Published in The American journal of sports medicine (01-03-1989)“…In a practice involving large groups of athletes, seven runners and one soccer player with peroneal nerve compression neuropathy secondary to exercise have…”
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Journal Article