Хайлтын үр дүнгүүд - Nobuhiko Okamoto

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  1. 1
    Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

    Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan -н Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada

    Хэвлэсэн 2025
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    Artigo
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  2. 2
    KIF1A mutation in a patient with progressive neurodegeneration

    KIF1A mutation in a patient with progressive neurodegeneration -н Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Keiko Yanagihara, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki

    Хэвлэсэн 2014
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    Artigo
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  3. 3
    Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

    Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach -н Toshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, Katsumi Imai, Pin Fee Chong, Ryutaro Kira, Mitsuhiro Amemiya, Akira Saito, Nobuhiko Okamoto

    Хэвлэсэн 2016
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    Artigo
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  4. 4
    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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  5. 5
    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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  6. 6
    Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

    Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICP... -н Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun‐ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

    Хэвлэсэн 2017
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    Artigo
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  7. 7
    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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  8. 8
    Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

    Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation -н Takanobu Otomo, Takeshi Muramatsu, Tohru Yorifuji, Torayuki Okuyama, Hiroki Nakabayashi, Toshiyuki Fukao, Toshihiro Ohura, Makoto Yoshino, Akemi Tanaka, Nobuhiko Okamoto, Koji Inui, Keiichi Ozono, Norio Sakai

    Хэвлэсэн 2009
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    Artigo
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  9. 9
    Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences

    Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences -н Mamiko Yamada, Yohei Nitta, Tomoko Uehara, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Masaru Tamura, Shinya Ayabe, Atsushi Yoshiki, Akiteru Maeno, Yumiko Saga, Tamio Furuse, Ikuko Yamada, Nobuhiko Okamoto, Kenjiro Kosaki, Atsushi Sugie

    Хэвлэсэн 2023
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    Artigo
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  10. 10
    Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

    Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency -н Naohiro Kurotaki, Joseph Shen, Mayumi Touyama, Tatsuro Kondoh, Remco Visser, Takao Ozaki, Junji Nishimoto, Takashi Shiihara, Kimiaki Uetake, Yoshio Makita, Naoki Harada, Salmo Raskin, Chester Brown, Pia Höglund, Nobuhiko Okamoto, James R. Lupski

    Хэвлэсэн 2005
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    Artigo
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  11. 11
    Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

    Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome -н Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto

    Хэвлэсэн 2017
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    Artigo
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  12. 12
    De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

    De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy -н Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, Yoshihiro Maegaki, Kazuhiro Haginoya, Shuji Mizumoto, Mitsuhiro Kato, Nobuhiko Okamoto, Mizue Iai, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Kazuyuki Sugahara, Isao Yuasa, Yoshinao Wada, Naomichi Matsumoto, Hirotomo Saitsu

    Хэвлэсэн 2013
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    Artigo
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  13. 13
    Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

    Germline-Activating RRAS2 Mutations Cause Noonan Syndrome -н Tetsuya Niihori, Koki Nagai, Atsushi Fujita, Hirofumi Ohashi, Nobuhiko Okamoto, Satoshi Okada, Atsuko Harada, Hirotaka Kihara, Thomas Arbogast, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Taiki Abe, Shin‐ichi Inoue, I-Chun Tsai, Naomichi Matsumoto, Erica E. Davis, Nicholas Katsanis, Yoko Aoki

    Хэвлэсэн 2019
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    Artigo
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  14. 14
    De novo SOX11 mutations cause Coffin–Siris syndrome

    De novo SOX11 mutations cause Coffin–Siris syndrome -н Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, Shubha R. Phadke, Ikuyo Kou, Masaaki Shiina, Toshifumi Suzuki, Nobuhiko Okamoto, Shintaro Imamura, Michiaki Yamashita, Satoshi Watanabe, Koh-ichiro Yoshiura, Hirofumi Kodera, Satoko Miyatake, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Shiro Ikegawa, Noriko Miyake, Naomichi Matsumoto

    Хэвлэсэн 2014
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    Artigo
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  15. 15
    <i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

    <i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders -н Chihiro Ohba, Masaaki Shiina, Jun Tohyama, Kazuhiro Haginoya, Tally Lerman‐Sagie, Nobuhiko Okamoto, Lubov Blumkin, Dorit Lev, Souichi Mukaida, Fumihito Nozaki, Mitsugu Uematsu, Akira Onuma, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Mitsuhiro Kato, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto

    Хэвлэсэн 2015
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    Artigo
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  16. 16
    Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

    Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies -н Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, Nobuhiko Okamoto, Raoul C. M. Hennekam, Saskia Hopman, Hirofumi Ohashi, Seiji Mizuno, Yoriko Watanabe, Hotaka Kamasaki, Ikuko Kondo, Nobuko Moriyama, Kenji Kurosawa, Hiroshi Kawame, Ryuhei Okuyama, Masue Imaizumi, Takeshi Rikiishi, Shigeru Tsuchiya, Shigeo Kure, Yoichi Matsubara

    Хэвлэсэн 2010
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    Artigo
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  17. 17
    OA05.05 Ifinatamab Deruxtecan (I-DXd; DS-7300) in Patients with Refractory SCLC: A Subgroup Analysis of a Phase 1/2 Study

    OA05.05 Ifinatamab Deruxtecan (I-DXd; DS-7300) in Patients with Refractory SCLC: A Subgroup Analysis of a Phase 1/2 Study -н Melissa L. Johnson, Mark M. Awad, T. Koyama, Martin Gutierrez, G.S. Falchook, Sarina A. Piha‐Paul, Toshihiko Doi, Toru Satoh, Nobuhiko Okamoto, Jasveer Singh, N. Yoshizuka, M. Qian, Xiaozhong Qian, Brittany P. Tran, O. Dosunmu, Rastislav Mucha, Hillarie Plessner Windish, Manish R. Patel

    Хэвлэсэн 2023
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    Artigo
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  18. 18
    Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

    Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay -н Hirotomo Saitsu, Ryoko Fukai, Bruria Ben‐Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saitō, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

    Хэвлэсэн 2015
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    Artigo
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  19. 19
    Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

    Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders -н Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Nobuhiko Okamoto, Hirokazu Kurahashi, Nina Ekhilevitch, Masaaki Shiina, Gen Nishimura, Takashi Shibata, Muneaki Matsuo, Tae Ikeda, Kazuhiro Ogata, Naomi Tsuchida, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Hirotomo Saitsu, Naomichi Matsumoto

    Хэвлэсэн 2018
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    Artigo
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  20. 20
    Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

    Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome -н Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Shin-ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara

    Хэвлэсэн 2013
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    Artigo
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