نتائج البحث - Shin Nabatame

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  1. 1
    SPTAN1 encephalopathy: distinct phenotypes and genotypes

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

    منشور في 2015
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    Revisão
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  2. 2
    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 حسب Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu, Naomichi Matsumoto

    منشور في 2014
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    Artigo
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  3. 3
    De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy

    De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy حسب Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, Hitoshi Osaka, Takashi Shiihara, Jun Tohyama, Shin Nabatame, Junji Azuma, Yuji Fujii, Munetsugu Hara, Reimi Tsurusawa, Takahito Inoue, Reina Ogata, Yoriko Watanabe, Noriko Togashi, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

    منشور في 2015
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    Artigo
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  4. 4
    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression حسب Davut Pehli̇van, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper Eisfeldt, Maria Pettersson, Lynn Liu, Marwan Shinawi, Virginia Kimonis, Wojciech Wiszniewski, Kyle McKenzie, Timo Roser, Angela Maria Vianna‐Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James Paul Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M.B. Carvalho

    منشور في 2024
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    Artigo
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  5. 5
    Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

    Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy حسب Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun‐ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

    منشور في 2019
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    Artigo
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  6. 6
    Everolimus for treatment-refractory seizures in TSC

    Everolimus for treatment-refractory seizures in TSC حسب David Neal Franz, John A. Lawson, Zühal Yapıcı, Hiroko Ikeda, Tilman Polster, Rima Nabbout, Paolo Curatolo, Petrus J. de Vries, Dennis Dlugos, Maurizio Voi, Jenna Fan, A. Thareau Vaury, Diana Pelov, Jacqueline A. French, Ángeles Schteinschnaider, Ignacio Sfaello, John A. Lawson, Lakshmi Nagarajan, Simon Harvey, Hélène Verhelst, Liesbeth De Waele, Patrick Van Bogaert, Riëm El Tahry, Anna Jansen, Mary Connolly, Philippe Major, Alberto Velez, Orlando Carreno, Juan Carlos Gómez, Jakob Christensen, Louis Vallée, Sylvie Nguyen The Tich, Mathieu Milh, Anne de Saint Martin, Patrick Berquin, Dorothée Ville, Adelheid Wiemer‐Kruel, Christoph Hertzberg, Gert Wiegand, Tilman Polster, Antigone Papavasiliou, Meropi Tzoufi, András Fogarasi, Zsuzsanna Gyorsok, Péter Diószeghy, David William Webb, G. Bartalini, Giuseppe Gobbi, Maria Paola Canevini, Pierangelo Veggiotti, M. G. Baglietto, Anna Teresa Giallonardo, Nicola Laforgia, Raffaele Falsaperla, Hiroko Ikeda, Shin Nabatame, Hisashi Kawawaki, Harumi Yoshinaga, Masaya Kubota, Yasuhiro Suzuki, Hugo Ceja Moreno, Bernard A. Zonnenberg, Marie‐Claire Y. de Wit, Marian Majoie, Marit Bjoernvold, Sergiusz Jóźwiak, Kijoong Kim, Heung Dong Kim, Munhyang Lee, Taesung Ko, Elena Belousova, Nataliya A. Ermolenko, И. Е. Повереннова, Liudmila Kuzenkova, Maria Luz Ruiz Falco Rojas, Adolfo López de Munaín, Juan Rodríguez Uranga, Vicente Villanueva, Pi‐Chuan Fan, Chao Huang, Ying‐Chao Chang, Charcrin Nabangchang, Krisnachai Chomtho, Surachai Likasitwattanakul, Lunliya Thampratankul, Zühal Yapıcı, Ayşe Serdaroğlu, Banu Ahlar, Sarah Aylett, Archana Desurkar, Clare Johnston, Matthias J. Koepp, Hannah R. Cock, Alasdair Parker, Dougall McCorry, Richard Appleton, Steven Sparagana, Katherine S. Taub, Michael Frost, Colin Roberts

    منشور في 2018
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    Artigo
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