檢索結果 - Hirotomo Saitsu

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  1. 1
    Bortezomib-resistance is associated with increased levels of proteasome subunits and apoptosis-avoidance

    Bortezomib-resistance is associated with increased levels of proteasome subunits and apoptosis-avoidance 由 Yixin Wu, Jiahua Yang, Hirotomo Saitsu

    出版 2016
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  2. 2
    Spatial and temporal expression of <i>folate‐binding protein 1</i> (<i>Fbp1</i>) is closely associated with anterior neural tube closure in mice

    Spatial and temporal expression of <i>folate‐binding protein 1</i> (<i>Fbp1</i>) is closely associated with anterior neural tube closure in mice 由 Hirotomo Saitsu, Mākoto Ishibashi, Hitoo Nakano, Kohei Shiota

    出版 2002
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  3. 3
    Evaluation of intraoperative microwave coagulo‐necrotic therapy (MCN) for hepatocellular carcinoma: a single center experience of 719 consecutive cases

    Evaluation of intraoperative microwave coagulo‐necrotic therapy (MCN) for hepatocellular carcinoma: a single center experience of 719 consecutive cases 由 Yuko Takami, Tomoki Ryu, Yoshiyuki Wada, Hirotomo Saitsu

    出版 2012
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  4. 4
    Accelerated growth rates of recurrent hepatocellular carcinoma after liver transplantation

    Accelerated growth rates of recurrent hepatocellular carcinoma after liver transplantation 由 Itsuo Yokoyama, Brian I. Carr, Hirotomo Saitsu, Shunzaburo Iwatsuki, Thomas E. Starzl

    出版 1991
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  5. 5
    Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

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

    出版 2014
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  6. 6
    Homozygous <i>FIGLA</i> missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review

    Homozygous <i>FIGLA</i> missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review 由 Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata

    出版 2025
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  7. 7
    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 由 Ryoko Fukai, Yoko Hiraki, Hiroko Yofune, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

    出版 2015
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  8. 8
    SPTAN1 encephalopathy: distinct phenotypes and genotypes

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

    出版 2015
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  9. 9
    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 由 Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu, Naomichi Matsumoto

    出版 2014
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  10. 10
    KDM6A Point Mutations Cause Kabuki Syndrome

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

    出版 2012
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  11. 11
    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 由 Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara, Hideshi Kawashima, Tsukasa Ohashi, Hideaki Shiraishi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto

    出版 2015
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  12. 12
    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 由 Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

    出版 2017
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  13. 13
    <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 由 Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, Rie Anzai, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Taroh Kinoshita, Naomichi Matsumoto, Hirotomo Saitsu

    出版 2014
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  14. 14
    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 由 Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

    出版 2011
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  15. 15
    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 由 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

    出版 2015
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  16. 16
    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 由 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

    出版 2016
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  17. 17
    Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations

    Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations 由 Michihiro Kono, Fumihiro Matsumoto, Yasuhiro Suzuki, Mutsumi Suganuma, Hirotomo Saitsu, Yasutomo Ito, Sakuhei Fujiwara, Shinichi Moriwaki, Kazuhiko Matsumoto, Naomichi Matsumoto, Yasushi Tomita, Kazumitsu Sugiura, Masashi Akiyama

    出版 2016
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  18. 18
    Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

    Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome 由 Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, Masakazu Miyajima, Masataka Taguri, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Hiroyuki Mishima, Akira Kinoshita, Hajime Arai, Ko–ichiro Yoshiura, Naomichi Matsumoto

    出版 2016
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  19. 19
    Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

    Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome 由 Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, Masakazu Miyajima, Masataka Taguri, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Hiroyuki Mishima, Akira Kinoshita, Hajime Arai, Ko–ichiro Yoshiura, Naomichi Matsumoto

    出版 2017
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  20. 20
    A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

    A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation 由 Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi, Ming Lee, Yoshinori Tsurusaki, Noriko Miyake, Yu-ichi Goto, Ichizo Nishino, Akira Ohtake, Mary‐Claire King, Naomichi Matsumoto

    出版 2014
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