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Published in Nature (London) (24.01.2013)
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Published in Nature (21.05.2009)
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Biallelic GALM pathogenic variants cause a novel type of galactosemia
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Published in Genetics in medicine (01.06.2019)
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Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing
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Published in The Journal of molecular diagnostics : JMD (01.09.2018)
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A histone chaperone, DEK, transcriptionally coactivates a nuclear receptor
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Published in Genes & development (15.01.2010)
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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity
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Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Published in Cancer medicine (Malden, MA) (01.01.2023)
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Published in Journal of inherited metabolic disease (01.11.2017)
Published in Journal of inherited metabolic disease (01.11.2017)
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Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia
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Published in Genetics in medicine (01.07.2020)
Published in Genetics in medicine (01.07.2020)
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Ishige, Mika, Fuchigami, Tatsuo, Furukawa, Maki, Kobayashi, Hironori, Fujiki, Ryoji, Ogawa, Erika, Ishige, Nobuyuki, Sasai, Hideo, Fukao, Toshiyuki, Hashimoto, Koji, Inamo, Yasuji, Morioka, Ichiro
Published in Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy (01.11.2019)
Published in Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy (01.11.2019)
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Nakama, Mina, Sasai, Hideo, Kubota, Mitsuru, Hasegawa, Yuki, Fujiki, Ryoji, Okuyama, Torayuki, Ohara, Osamu, Fukao, Toshiyuki
Published in Human genome variation (02.04.2020)
Published in Human genome variation (02.04.2020)
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Ishino, Yugo, Hayashi, Yoshitaka, Naruse, Masae, Tomita, Koichi, Sanbo, Makoto, Fuchigami, Takahiro, Fujiki, Ryoji, Hirose, Kenzo, Toyooka, Yayoi, Fujimori, Toshihiko, Ikenaka, Kazuhiro, Hitoshi, Seiji
Published in The Journal of neuroscience (19.02.2014)
Published in The Journal of neuroscience (19.02.2014)
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