المؤلفون: Kontaridis, Maria I, Roberts, Amy E, Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Andelfinger, Gregor, Aoki, Yoko, Axelrad, Marni E, Bakker, Annette, Bennett, Anton M, Broniscer, Alberto, Castel, Pau, Chang, Caitlin A, Cyganek, Lukas, Das, Tirtha K, Hertog, Jeroen, Galperin, Emilia, Garg, Shruti, Gelb, Bruce D, Gordon, Kristiana, Green, Tamar, Gripp, Karen W, Itkin, Maxim, Kiuru, Maija, Korf, Bruce R, Livingstone, Jeff R, López‐Juárez, Alejandro, Magoulas, Pilar L, Mansour, Sahar, Milner, Theresa, Parker, Elisabeth, Pierpont, Elizabeth I, Plouffe, Kevin, Rauen, Katherine A, Shankar, Suma P, Smith, Shane B, Stevenson, David A, Tartaglia, Marco, Van, Richard, Wagner, Morgan E, Ware, Stephanie M, Zenker, Martin

المصدر: American Journal of Medical Genetics Part A. 188(6)

مصطلحات موضوعية: Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Costello Syndrome, Humans, Mitogen-Activated Protein Kinases, Noonan Syndrome, Signal Transduction, ras Proteins, cardiofaciocutaneus syndrome, Costello syndrome, neurofibromatosis, Noonan syndrome, RASopathy, signaling, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/44s997fhTest

المؤلفون: Izumi, Rumiko, Warita, Hitoshi, Niihori, Tetsuya, Furusawa, Yoshihiko, Nakano, Misa, Oya, Yasushi, Kato, Kazuhiro, Shiga, Takuro, Ikeda, Kensuke, Suzuki, Naoki, Nishino, Ichizo, Aoki, Yoko, Aoki, Masashi

المصدر: The Cerebellum ; ISSN 1473-4230

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1007/s12311-024-01666-1Test

المؤلفون: Zuiki, Masashi, Chiyonobu, Tomohiro, Morimoto, Hidechika, Sawada, Hiroko, Tozawa, Takenori, Hashiguchi, Kanae, Hasegawa, Tatsuji, Yamanaka, Takumi, Niihori, Tetsuya, Aoki, Yoko, Iehara, Tomoko

المصدر: Brain and Development Case Reports ; volume 2, issue 1, page 100005 ; ISSN 2950-2217

الإتاحة: https://doi.org/10.1016/j.bdcasr.2024.100005Test
https://api.elsevier.com/content/article/PII:S2950221724000011?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2950221724000011?httpAccept=text/plainTest

المؤلفون: Lee, Kenichi, Iguchi, Atsushi, Terano, Chikako, Hataya, Hiroshi, Isobe, Junko, Seto, Kazuko, Ishijima, Nozomi, Akeda, Yukihiro, Ohnishi, Makoto, Iyoda, Sunao, Morimoto, Yo, Ogawa, Keiko, Ishiguro, Makoto, Kikuchi, Masayuki, Sampei, Mika, Aoki, Yoko, Seto, Junji, Ishikawa, Kanako, Sato, Takashi, Kikuchi, Koji, Tomari, Kentaro, Ueno, Hiroyuki, Hazama, Kyoko, Kikuchi, Takashi, Yajima, Masayuki, Kanazawa, Satoko, Kawase, Masao, Kimata, Keiko, Yuruzume, Saya, Shiroza, Mika, Kitagawa, Emiko, Yoshikawa, Misa, Yokoyama, Koji, Ono, Satoko, Furukawa, Yumi, Matsuyama, Miki, Furuta, Ayako, Noda, Makiko, Kameyama, Yoshihiko, Aota, Tatsuaki, Katamune, Chiharu, Shimoda, Yuko, Abe, Yuri, Tamura, Sawako, Furukawa, Yurika, Obara, Atsumi

المساهمون: Liu, Po-Yu, Japan Agency for Medical Research and Development, MEXT | Japan Society for the Promotion of Science, Ministry of Health, Labour and Welfare

المصدر: Microbiology Spectrum ; volume 12, issue 1 ; ISSN 2165-0497

الإتاحة: https://doi.org/10.1128/spectrum.02355-23Test

المؤلفون: Izumi, Rumiko, Ikeda, Kensuke, Niihori, Tetsuya, Suzuki, Naoki, Shirota, Matsuyuki, Funayama, Ryo, Nakayama, Keiko, Warita, Hitoshi, Tateyama, Maki, Aoki, Yoko, Aoki, Masashi

المساهمون: Japan Society for the Promotion of Science

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 3, page 577-592 ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.51977Test

المؤلفون: Abe, Taiki, Kanno, Shin-ichiro, Niihori, Tetsuya, Terao, Miho, Takada, Shuji, Aoki, Yoko

المصدر: Cell Death & Disease ; volume 14, issue 8 ; ISSN 2041-4889

مصطلحات موضوعية: Cancer Research, Cell Biology, Cellular and Molecular Neuroscience, Immunology

الإتاحة: https://doi.org/10.1038/s41419-023-06072-9Test
https://www.nature.com/articles/s41419-023-06072-9.pdfTest
https://www.nature.com/articles/s41419-023-06072-9Test

المؤلفون: Kume, Kodai, Kurashige, Takashi, Muguruma, Keiko, Morino, Hiroyuki, Tada, Yui, Kikumoto, Mai, Miyamoto, Tatsuo, Akutsu, Silvia Natsuko, Matsuda, Yukiko, Matsuura, Shinya, Nakamori, Masahiro, Nishiyama, Ayumi, Izumi, Rumiko, Niihori, Tetsuya, Ogasawara, Masashi, Eura, Nobuyuki, Kato, Tamaki, Yokomura, Mamoru, Nakayama, Yoshiaki, Ito, Hidefumi, Nakamura, Masataka, Saito, Kayoko, Riku, Yuichi, Iwasaki, Yasushi, Maruyama, Hirofumi, Aoki, Yoko, Nishino, Ichizo, Izumi, Yuishin, Aoki, Masashi, Kawakami, Hideshi

المصدر: The American Journal of Human Genetics ; volume 110, issue 7, page 1086-1097 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.05.014Test
https://api.elsevier.com/content/article/PII:S0002929723001982?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929723001982?httpAccept=text/plainTest

المؤلفون: Okubo, Yukimune, Shibuya, Moriei, Nakamura, Haruhiko, Kawashima, Aritomo, Kodama, Kaori, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Aihara, Yu, Shirota, Matsuyuki, Funayama, Ryo, Niihori, Tetsuya, Fujita, Atsushi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kure, Shigeo, Kikuchi, Atsuo, Haginoya, Kazuhiro

المساهمون: Takeda Science Foundation, Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

المصدر: Brain and Development ; volume 45, issue 9, page 505-511 ; ISSN 0387-7604

مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.braindev.2023.06.009Test
https://api.elsevier.com/content/article/PII:S0387760423001109?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0387760423001109?httpAccept=text/plainTest

المؤلفون: Matsuzaki, Yoko, Sugawara, Kanetsu, Kidoguchi, Yuko, Kadowaki, Yoko, Shimotai, Yoshitaka, Katsushima, Yuriko, Katsushima, Fumio, Tanaka, Shizuka, Matoba, Yohei, Komabayashi, Kenichi, Aoki, Yoko, Mizuta, Katsumi

المصدر: Viruses (1999-4915); Jun2024, Vol. 16 Issue 6, p983, 10p

المؤلفون: Izumi, Rumiko, Ikeda, Kensuke, Niihori, Tetsuya, Suzuki, Naoki, Shirota, Matsuyuki, Funayama, Ryo, Nakayama, Keiko, Warita, Hitoshi, Tateyama, Maki, Aoki, Yoko, Aoki, Masashi

المصدر: Annals of Clinical & Translational Neurology; Mar2024, Vol. 11 Issue 3, p577-592, 16p

مصطلحات موضوعية: NUCLEAR pore complex, CELLULAR inclusions, NUCLEOCYTOPLASMIC interactions, NUCLEAR transport, RNA sequencing, CYTOPLASM