Hasil Pencarian - Toshiki Takenouchi

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  1. 1
    Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

    Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency oleh Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi

    Diterbitkan 2023-06-01
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  2. 2
    Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report

    Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report oleh Shogo Ouchi, Kazuhiro Ishii, Kenjiro Kosaki, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Akira Tamaoka

    Diterbitkan 2023-06-01
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  3. 3
    Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3

    Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3 oleh Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Tsutomu Takahashi

    Diterbitkan 2022-06-01
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  4. 4
    Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

    Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intelle... oleh Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe‐Hatano, Kenji Kurosawa, Kenjiro Kosaki

    Diterbitkan 2020-09-01
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  5. 5
    A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

    A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30 oleh Kimiko Ueda, Atsushi Araki, Atsushi Fujita, Naomichi Matsumoto, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Nobuhiko Okamoto

    Diterbitkan 2021-06-01
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  6. 6
    Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication

    Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication oleh Takuya Masuda, Hitoshi Osaka, Naomi Tsuchida, Satoko Miyatake, Kou Nishimura, Toshiki Takenouchi, Takao Takahashi, Naomichi Matsumoto, Takanori Yamagata

    Diterbitkan 2022-01-01
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  7. 7
    De novo NSF mutations cause early infantile epileptic encephalopathy

    De novo NSF mutations cause early infantile epileptic encephalopathy oleh Hisato Suzuki, Takeshi Yoshida, Naoya Morisada, Tomoko Uehara, Kenjiro Kosaki, Katsunori Sato, Kohei Matsubara, Toshiyuki Takano‐Shimizu, Toshiki Takenouchi

    Diterbitkan 2019-11-01
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  8. 8
    A Pediatric Case of Antibiotic-Associated Hemorrhagic Colitis Caused by

    A Pediatric Case of Antibiotic-Associated Hemorrhagic Colitis Caused by oleh Mamiko Yamada MD, Kazuki Yamazawa MD, Shinichiro Sekiguchi MD, Masayoshi Shinjoh MD, Kentaro Tomita MD, Toshiki Takenouchi MD, Takao Takahashi MD

    Diterbitkan 2014-09-01
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  9. 9
    Oculofaciocardiodental syndrome caused by a novel BCOR variant

    Oculofaciocardiodental syndrome caused by a novel BCOR variant oleh Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto

    Diterbitkan 2023-06-01
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  10. 10
    A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

    A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2 oleh Saki Saeki, Takashi Enokizono, Kazuo Imagawa, Hiroko Fukushima, Daigo Kajikawa, Aiko Sakai, Mai Tanaka, Tatsuyuki Ohto, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kosaki Kenjiro, Hidetoshi Takada

    Diterbitkan 2019-11-01
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  11. 11
    Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

    Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants oleh Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu

    Diterbitkan 2021-01-01
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  12. 12
    Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

    Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration oleh Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa, Toshiki Takenouchi, Tomonari Awaya, Masahiko Ajiro, Atsuko Takeuchi, Hisahide Nishio, Masatoshi Hagiwara, Fuyuki Miya, Masafumi Matsuo, Kenjiro Kosaki

    Diterbitkan 2024-03-01
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  13. 13
    Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells

    Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells oleh Ritsuko Harigai, Shigeki Sakai, Hiroyuki Nobusue, Chikako Hirose, Oltea Sampetrean, Noriaki Minami, Yukie Hata, Takashi Kasama, Takanori Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Kazuo Kishi, Hideyuki Saya, Yoshimi Arima

    Diterbitkan 2018-04-01
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  14. 14
    Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

    Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis oleh Daisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, Hisato Suzuki, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Toshiki Takenouchi, Mamiko Yamada, Daisuke Nakato, Masayuki Sato, Tatsuhiko Tsunoda, Kenjiro Kosaki, Fuyuki Miya

    Diterbitkan 2024-08-01
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  15. 15
    Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

    Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome oleh Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh

    Diterbitkan 2023-10-01
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  16. 16
    Pro108Ser mutation of SARS-CoV-2 3CLpro reduces the enzyme activity and ameliorates the clinical severity of COVID-19

    Pro108Ser mutation of SARS-CoV-2 3CLpro reduces the enzyme activity and ameliorates the clinical severity of COVID-19 oleh Kodai Abe, Yasuaki Kabe, Susumu Uchiyama, Yuka W. Iwasaki, Hirotsugu Ishizu, Yoshifumi Uwamino, Toshiki Takenouchi, Shunsuke Uno, Makoto Ishii, Takahiro Maruno, Masanori Noda, Mitsuru Murata, Naoki Hasegawa, Hideyuki Saya, Yuko Kitagawa, Koichi Fukunaga, Masayuki Amagai, Haruhiko Siomi, Makoto Suematsu, Kenjiro Kosaki, Keio Donner Project

    Diterbitkan 2022-01-01
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