検索結果 - Yoshinori Tsurusaki

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  1. 1
    Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

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

    出版事項 2014
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    Artigo
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  2. 2
    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 著者: Ryoko Fukai, Yoko Hiraki, Hiroko Yofune, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

    出版事項 2015
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    Artigo
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  3. 3
    Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

    Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly 著者: Yota Sato, Jun Shibasaki, Noriko Aida, Kazuya Hiiragi, Yuichi Kimura, Moe Akahira‐Azuma, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa

    出版事項 2018
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    Artigo
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  4. 4
    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 著者: Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu, Naomichi Matsumoto

    出版事項 2014
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    Artigo
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  5. 5
    KDM6A Point Mutations Cause Kabuki Syndrome

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

    出版事項 2012
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    Artigo
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  6. 6
    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 著者: Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

    出版事項 2017
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    Artigo
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  7. 7
    <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 著者: Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, Rie Anzai, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Taroh Kinoshita, Naomichi Matsumoto, Hirotomo Saitsu

    出版事項 2014
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    Artigo
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  8. 8
    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 著者: Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

    出版事項 2011
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    Artigo
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  9. 9
    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 著者: 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

    出版事項 2015
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    Artigo
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  10. 10
    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 著者: 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

    出版事項 2016
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    Revisão
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  11. 11
    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 著者: 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

    出版事項 2014
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    Artigo
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  12. 12
    Somatic mutations in <i> <scp>GLI</scp> 3 </i> and <i> <scp>OFD</scp> 1 </i> involved in sonic hedgehog signaling cause hypothalamic hamartoma

    Somatic mutations in <i> <scp>GLI</scp> 3 </i> and <i> <scp>OFD</scp> 1 </i> involved in sonic hedgehog signaling cause hypothalamic hamartoma 著者: Hirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Jun Tohyama, Mitsuhiro Kato, Mitsuko Nakashima, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Shigeki Kameyama, Naomichi Matsumoto

    出版事項 2016
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    Artigo
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  13. 13
    De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

    De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing 著者: Hirotomo Saitsu, Tenpei Akita, Jun Tohyama, Hadassa Goldberg‐Stern, Yu Kobayashi, Roni Cohen, Mitsuhiro Kato, Chihiro Ohba, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto

    出版事項 2015
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    Artigo
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  14. 14
    Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

    Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features 著者: Yuriko Yoneda, Hirotomo Saitsu, Mayumi Touyama, Yoshio Makita, Akie Miyamoto, Keisuke Hamada, Naohiro Kurotaki, Hiroaki Tomita, Kiyomi Nishiyama, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kazuhiro Ogata, Kenji Naritomi, Naomichi Matsumoto

    出版事項 2012
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    Artigo
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  15. 15
    De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

    De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance 著者: Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, Kazuo Kubota, Akihiko Ishiyama, Takuya Hiraide, Hirofumi Komaki, Masayuki Sasaki, Satoko Miyatake, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

    出版事項 2015
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    Artigo
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  16. 16
    Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

    Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach 著者: Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Eri Imagawa, Chihiro Ohba, Ichiro Kuki, Megumi Nukui, Atsushi Araki, Yoshio Makita, Tsutomu Ogata, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto

    出版事項 2015
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    Artigo
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  17. 17
    Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

    Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa 著者: Satoshi Katagiri, Masakazu Akahori, Yuri V. Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yoshinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, Takeshi Iwata

    出版事項 2014
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    Artigo
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  18. 18
    Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

    Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy 著者: Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun‐ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Hiroshi Doi, Kazuhiro Ogata, Ken Inoue, Naomichi Matsumoto

    出版事項 2011
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    Artigo
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  19. 19
    DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis

    DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis 著者: Naoki Kubo, Hidehiro Toh, Kenjiro Shirane, Takayuki Shirakawa, Hisato Kobayashi, Tetsuya Sato, Hirohito Sone, Yasuyuki Sato, Shin-ichi Tomizawa, Yoshinori Tsurusaki, Hiroki Shibata, Hirotomo Saitsu, Yutaka Suzuki, Naomichi Matsumoto, Mikita Suyama, Tomohiro Kono, Kazuyuki Ohbo, Hiroyuki Sasaki

    出版事項 2015
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    Artigo
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  20. 20
    Mitochondrial Complex III Deficiency Caused by a Homozygous<i>UQCRC2</i>Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

    Mitochondrial Complex III Deficiency Caused by a Homozygous<i>UQCRC2</i>Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation 著者: Noriko Miyake, Shoji Yano, Chika Sakai, Hideyuki Hatakeyama, Yuichi Matsushima, Masaaki Shiina, Yoriko Watanabe, James Bartley, José E. Abdenur, Raymond Wang, Richard Chang, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Yu-ichi Goto, Naomichi Matsumoto

    出版事項 2012
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    Artigo
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