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    Principles of Real Analysis : measure, integration, functional analysis, and applications / by Junghenn, Hugo D. (Hugo Dietrich), 1939-

    Published 2018
    “…measure, integration, functional analysis, and applications /…”
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    Book
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    Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

    Published 2025-02-01
    “…Herein, we are the first to report a 5-year-old boy with the blended phenotypes of infantile hypotonia, severe neurodevelopmental disorder, patent ductus arteriosus, cryptorchidism, obesity, distinctive facial features, and elevated isovaleryl carnitine.MethodsTrio-based whole-exome sequencing was performed on genomic DNA from peripheral blood samples from the boy and his parents. Functional analysis of the IVD variant in vitro was performed. …”
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