Хайлтын үр дүнгүүд - Naomichi Matsumoto

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  1. 1
    Recent progress in genetics of Marfan syndrome and Marfan-associated disorders

    Recent progress in genetics of Marfan syndrome and Marfan-associated disorders -н Takeshi Mizuguchi, Naomichi Matsumoto

    Хэвлэсэн 2006
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    Revisão
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  2. 2
    Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci

    Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci -н Atsushi Takata, Naomichi Matsumoto, Tadafumi Kato

    Хэвлэсэн 2017
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    Artigo
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  3. 3
    Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

    Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing -н Toshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Satoru Takeda, Naomichi Matsumoto

    Хэвлэсэн 2014
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    Artigo
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  4. 4
    Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

    Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion -н Remco Visser, Osamu Shimokawa, Naoki Harada, Akira Kinoshita, Tohru Ohta, Norio Niikawa, Naomichi Matsumoto

    Хэвлэсэн 2004
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    Artigo
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  5. 5
    A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway

    A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway -н Yukio Watanabe, Akira Kinoshita, Takahiro Yamada, Tohru Ohta, Tatsuya Kishino, Naomichi Matsumoto, Mutsuo Ishikawa, N Niikawa, K. Yoshiura

    Хэвлэсэн 2002
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    Artigo
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  6. 6
    A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

    A case of autism spectrum disorder arising from a de novo missense mutation in POGZ -н Ryoko Fukai, Yoko Hiraki, Hiroko Yofune, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

    Хэвлэсэн 2015
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    Artigo
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  7. 7
    Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

    Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) -н Tomohiko Kayashima, Hidenori Matsuo, Akira Satoh, Tohru Ohta, Koh-ichiro Yoshiura, Naomichi Matsumoto, Y. Nakane, Norio Niikawa, Tatsuya Kishino

    Хэвлэсэн 2002
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    Artigo
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  8. 8
    Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

    Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1 -н Daniela T. Pilz, J. Kuć, Naomichi Matsumoto, Joann Bodurtha, B. Bernadi, C. A. Tassinari, William B. Dobyns, David H. Ledbetter

    Хэвлэсэн 1999
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    Artigo
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  9. 9
    SPTAN1 encephalopathy: distinct phenotypes and genotypes

    SPTAN1 encephalopathy: distinct phenotypes and genotypes -н Jun Tohyama, Mitsuko Nakashima, Shin Nabatame, Ch'ng Gaik-Siew, Rie Miyata, Zvonka Rener‐Primec, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

    Хэвлэсэн 2015
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    Revisão
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  10. 10
    Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

    Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads -н Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto

    Хэвлэсэн 2019
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    Artigo
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  11. 11
    De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

    De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain -н Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu, Naomichi Matsumoto

    Хэвлэсэн 2014
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    Artigo
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  12. 12
    KDM6A Point Mutations Cause Kabuki Syndrome

    KDM6A Point Mutations Cause Kabuki Syndrome -н Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, Hirofumi Ohashi, Masaaki Shiina, Kazuhiro Ogata, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Norio Niikawa, Naomichi Matsumoto

    Хэвлэсэн 2012
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    Artigo
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  13. 13
    High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

    High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders -н Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara, Hideshi Kawashima, Tsukasa Ohashi, Hideaki Shiraishi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto

    Хэвлэсэн 2015
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    Artigo
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  14. 14
    ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

    ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome -н Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

    Хэвлэсэн 2017
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    Artigo
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  15. 15
    <i><scp>PIGO</scp></i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

    <i><scp>PIGO</scp></i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels -н Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, Rie Anzai, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Taroh Kinoshita, Naomichi Matsumoto, Hirotomo Saitsu

    Хэвлэсэн 2014
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    Artigo
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  16. 16
    De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

    De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly -н Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

    Хэвлэсэн 2011
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    Artigo
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  17. 17
    LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

    LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density -н Takeshi Mizuguchi, Itsuko Furuta, Yukio Watanabe, Kazuhiro Tsukamoto, Hiroshi Tomita, Mitsuhiro Tsujihata, Tohru Ohta, Tatsuya Kishino, Naomichi Matsumoto, Hisanori Minakami, Norio Niikawa, Koh-ichiro Yoshiura

    Хэвлэсэн 2004
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    Artigo
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  18. 18
    De novo <i><scp>DNM1</scp></i> mutations in two cases of epileptic encephalopathy

    De novo <i><scp>DNM1</scp></i> mutations in two cases of epileptic encephalopathy -н Mitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, Masaaki Shiina, Tomohide Goto, Yoshinori Tsurusaki, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Hitoshi Osaka, Naomichi Matsumoto

    Хэвлэсэн 2015
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    Artigo
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  19. 19
    De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

    De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures -н Ryoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, Yasunari Sakai, Kazuhiro Haginoya, Kazumasa Takahashi, Monika Weisz Hubshman, Nobuhiko Okamoto, Mitsuko Nakashima, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

    Хэвлэсэн 2016
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    Revisão
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  20. 20
    Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation

    Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation -н Daisuke Kurotaki, Naoki Osato, Akira Nishiyama, Michio Yamamoto, Tatsuma Ban, Hideaki Sato, Jun Nakabayashi, Marina Umehara, Noriko Miyake, Naomichi Matsumoto, Masatoshi Nakazawa, Keiko Ozato, Tomohiko Tamura

    Хэвлэсэн 2013
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    Artigo
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