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within Yuki Hasegawa Remove this filter Biomedicine, general Remove this filter Human Genetics Remove this filter

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  1. Article

    Open Access

    Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency

    We encountered a patient with mitochondrial trifunctional protein deficiency in whom the corresponding mutations were not identified by a DNA panel for newborn screening for targeted diseases. After diagnosis ...

    Mina Nakama, Hideo Sasai, Mitsuru Kubota, Yuki Hasegawa… in Human Genome Variation (2020)

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    Article

    Deep transcriptome profiling of mammalian stem cells supports a regulatory role for retrotransposons in pluripotency maintenance

    Piero Carninci and colleagues report the discovery of a large class of noncoding RNAs, non-annotated stem cell transcripts (NASTs), which are implicated in the regulation of stem cell properties. The authors i...

    Alexandre Fort, Kosuke Hashimoto, Daisuke Yamada, Md Salimullah… in Nature Genetics (2014)