Search Results - Hirakiyama, A

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  1. 1
    The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141 of the SLCO2A1 gene

    The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141 of the SLCO2A1 gene by Niizeki, H, Shiohama, A, Sasaki, T, Seki, A, Kabashima, K, Otsuka, A, Kosaki, K, Ogo, A, Yamada, T, Miyasaka, M, Matsuoka, K, Hirakiyama, A, Okuyama, T, Matsuda, M, Nakabayashi, K, Tanese, K, Ishiko, A, Amagai, M, Kudoh, J

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  2. 2
    Retinoic Acid Imprints Gut-Homing Specificity on T Cells

    Retinoic Acid Imprints Gut-Homing Specificity on T Cells by Iwata, Makoto, Hirakiyama, Asami, Eshima, Yuko, Kagechika, Hiroyuki, Kato, Chieko, Song, Si-Young

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  3. 3
    Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

    Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies by AZUMA, N, HIRAKIYAMA, A, INOUE, T, ASAKA, A, YAMADA, M

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  4. 4
    The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141 of the SLCO2A1 gene

    The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141 of the SLCO2A1 gene by Niizeki, H, Shiohama, A, Sasaki, T, Seki, A, Kabashima, K, Otsuka, A, Kosaki, K, Ogo, A, Yamada, T, Miyasaka, M, Matsuoka, K, Hirakiyama, A, Okuyama, T, Matsuda, M, Nakabayashi, K, Tanese, K, Ishiko, A, Amagai, M, Kudoh, J

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  5. 5
    Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses

    Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses by Oboshi, Wataru, Tanaka, Misa, Hirakiyama, Asami, Seo, Joo-Hyun, Ohtake, Akira, Murayama, Kei, Okuyama, Torayuki

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  6. 6
    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan by Fukuhara, Yasuyuki, Fuji, Naoko, Yamazaki, Narutoshi, Hirakiyama, Asami, Kamioka, Tetsuharu, Seo, Joo-Hyun, Mashima, Ryuichi, Kosuga, Motomichi, Okuyama, Torayuki

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  7. 7
    Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

    Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene by Ozono, Tatsuhiko, Kinoshita, Makoto, Narita, Aya, Hirakiyama, Asami, Kosuga, Motomichi, Okuyama, Torayuki, Fukada, Kei

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  8. 8
    Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with pachydermoperiostosis

    Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with pachydermoperiostosis by Sasaki, Takashi, Niizeki, Hironori, Shimizu, Atsushi, Shiohama, Aiko, Hirakiyama, Asami, Okuyama, Torayuki, Seki, Atsuhito, Kabashima, Kenji, Otsuka, Atsushi, Ishiko, Akira, Tanese, Keiji, Miyakawa, Shun-ichi, Sakabe, Jun-ichi, Kuwahara, Masamitsu, Amagai, Masayuki, Okano, Hideyuki, Suematsu, Makoto, Kudoh, Jun

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  9. 9
    Phenotype-genotype correlation in Japanese patients with mucopolysaccharidosis type ΙΙ

    Phenotype-genotype correlation in Japanese patients with mucopolysaccharidosis type ΙΙ by Okuyama, Torayuki, Kosuga, Motomichi, Hirakiyama, Asami, Mashima, Ryuichi

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  10. 10
    Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase

    Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural s... by Kosuga, Motomichi, Mashima, Ryuichi, Hirakiyama, Asami, Fuji, Naoko, Kumagai, Tadayuki, Seo, Joo-Hyun, Nikaido, Mari, Saito, Seiji, Ohno, Kazuki, Sakuraba, Hitoshi, Okuyama, Torayuki

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  11. 11
    Transcriptome tomography for brain analysis in the web-accessible anatomical space

    Transcriptome tomography for brain analysis in the web-accessible anatomical space by Okamura-Oho, Yuko, Shimokawa, Kazuro, Takemoto, Satoko, Hirakiyama, Asami, Nakamura, Sakiko, Tsujimura, Yuki, Nishimura, Masaomi, Kasukawa, Takeya, Masumoto, Koh-hei, Nikaido, Itoshi, Shigeyoshi, Yasufumi, Ueda, Hiroki R, Song, Gang, Gee, James, Himeno, Ryutaro, Yokota, Hideo

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