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1دورية أكاديمية
المؤلفون: Frost, F. Graeme, Morimoto, Marie, Sharma, Prashant, Ruaud, Lyse, Belnap, Newell, Calame, Daniel G., Uchiyama, Yuri, Matsumoto, Naomichi, Oud, Machteld M., Ferreira, Elise A., Narayanan, Vinodh, Rangasamy, Sampath, Huentelman, Matt, Emrick, Lisa T., Sato-Shirai, Ikuko, Kumada, Satoko, Wolf, Nicole I., Steinbach, Peter J., Huang, Yan, Pusey, Barbara N., Passemard, Sandrine, Levy, Jonathan, Drunat, Séverine, Vincent, Marie, Guet, Agnès, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria Cristina, Rosenfeld, Jill A., Murphy, Jennifer L., Lupski, James R., Vezina, Gilbert, Macnamara, Ellen F., Adams, David R., Acosta, Maria T., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.
المصدر: The American Journal of Human Genetics ; volume 110, issue 4, page 663-680 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.03.001Test
https://api.elsevier.com/content/article/PII:S000292972300085X?httpAccept=text/xmlTest
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2دورية أكاديمية
المؤلفون: Kishnani, Priya S., Kronn, David, Brassier, Anaïs, Broomfield, Alexander, Davison, James, Hahn, Si Houn, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Pichard, Samia, Prakalapakorn, S. Grace, Haack, Kristina An, Kittner, Barbara, Meng, Xianzhang, Sparks, Susan, Wilson, Catherine, Zaher, Atef, Chien, Yin-Hsiu
المصدر: Genetics in Medicine ; volume 25, issue 2, page 100328 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.10.010Test
https://api.elsevier.com/content/article/PII:S1098360022009960?httpAccept=text/xmlTest
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3دورية أكاديمية
المؤلفون: Ikezawa, Jun, Yokochi, Fusako, Okiyama, Ryoichi, Isoo, Ayako, Agari, Takashi, Kamiyama, Tsutomu, Yugeta, Akihiro, Tojima, Maya, Kawasaki, Takashi, Watanabe, Katsushige, Kumada, Satoko, Takahashi, Kazushi
المصدر: Journal of Neurology; Jun2024, Vol. 271 Issue 6, p2948-2954, 7p
مصطلحات موضوعية: MYOCLONUS, DEEP brain stimulation, SUBTHALAMIC nucleus, GENETIC mutation
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4دورية أكاديمية
المؤلفون: Kronn, David, Kishnani, Priya, Davison, James, Brassier, Anais, Broomfield, Alexander, Hahn, Sihoun, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Haack, Kristina An, Sparks, Susan, Tammireddy, Swathi, Zaher, Atef, Zhou, Tianyue, Chien, Yin-Hsiu
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107920 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107920Test
https://api.elsevier.com/content/article/PII:S1096719223005504?httpAccept=text/xmlTest
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5دورية أكاديمية
المؤلفون: Kishnani, Priya S., Weinert, Marguerite C., Davison, James, Brassier, Anais, Broomfield, Alexander, Chien, Yin-Hsiu, Hahn, Sihoun, Kronn, David, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Haack, Kristina An, Huynh-Ba, Olivier, Sparks, Susan, Tammireddy, Swathi, Zhou, Tianyue, Prakalapakorn, S. Grace
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107918 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107918Test
https://api.elsevier.com/content/article/PII:S1096719223005486?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223005486?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Fukuda, Mitsumasa, Matsuo, Takeshi, Fujimoto, So, Kashii, Hirofumi, Hoshino, Ai, Ishiyama, Akihiko, Kumada, Satoko
المصدر: Journal of Clinical Medicine; Feb2024, Vol. 13 Issue 3, p780, 11p
مصطلحات موضوعية: VAGUS nerve stimulation, CHILDHOOD epilepsy, CHILDREN with epilepsy, EPILEPSY, LITERATURE reviews, LENNOX-Gastaut syndrome
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7دورية أكاديمية
المؤلفون: Sakamoto, Masamune, Iwama, Kazuhiro, Sasaki, Masayuki, Ishiyama, Akihiko, Komaki, Hirofumi, Saito, Takashi, Takeshita, Eri, Shimizu-Motohashi, Yuko, Haginoya, Kazuhiro, Kobayashi, Tomoko, Goto, Tomohide, Tsuyusaki, Yu, Iai, Mizue, Kurosawa, Kenji, Osaka, Hitoshi, Tohyama, Jun, Kobayashi, Yu, Okamoto, Nobuhiko, Suzuki, Yume, Kumada, Satoko, Inoue, Kenji, Mashimo, Hideaki, Arisaka, Atsuko, Kuki, Ichiro, Saijo, Harumi, Yokochi, Kenji, Kato, Mitsuhiro, Inaba, Yuji, Gomi, Yuko, Saitoh, Shinji, Shirai, Kentaro, Morimoto, Masafumi, Izumi, Yuishin, Watanabe, Yoriko, Nagamitsu, Shin-ichiro, Sakai, Yasunari, Fukumura, Shinobu, Muramatsu, Kazuhiro, Ogata, Tomomi, Yamada, Keitaro, Ishigaki, Keiko, Hirasawa, Kyoko, Shimoda, Konomi, Akasaka, Manami, Kohashi, Kosuke, Sakakibara, Takafumi, Ikuno, Masashi, Sugino, Noriko, Yonekawa, Takahiro, Gürsoy, Semra
المساهمون: Takeda Science Foundation, Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science
المصدر: Genetics in Medicine ; volume 24, issue 12, page 2453-2463 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.08.007Test
https://api.elsevier.com/content/article/PII:S109836002200898X?httpAccept=text/xmlTest
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8دورية أكاديمية
المؤلفون: Kronn, David, Davison, James, Brassier, Anaïs, Broomfield, Alexander, Hahn, Si Houn, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Prakalapakorn, S. Grace, Haack, Kristina An, Meng, Xianzhang, Sparks, Susan, Tammireddy, Swathi, Wilson, Catherine, Zaher, Atef, Zhou, Tianyue, Chien, Yin-Hsiu, Kishnani, Priya, On behalf of the Mini-COMET investigators
المصدر: Genetics in Medicine ; volume 24, issue 3, page S348-S349 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.01.566Test
https://api.elsevier.com/content/article/PII:S1098360022005834?httpAccept=text/xmlTest
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9دورية أكاديمية
المؤلفون: Matsuhashi, Ako, Matsuo, Takeshi, Kumada, Satoko
المساهمون: Government of Japan Ministry of Health Labour and Welfare
المصدر: Epilepsy & Behavior Reports ; volume 18, page 100525 ; ISSN 2589-9864
مصطلحات موضوعية: Behavioral Neuroscience, Neurology (clinical), Neurology
الإتاحة: https://doi.org/10.1016/j.ebr.2022.100525Test
https://api.elsevier.com/content/article/PII:S2589986422000028?httpAccept=text/xmlTest
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10دورية أكاديمية
المؤلفون: Ikezawa, Jun, Yokochi, Fusako, Okiyama, Ryoichi, Kumada, Satoko, Tojima, Maya, Kamiyama, Tsutomu, Hanakawa, Takashi, Matsuda, Hiroshi, Tanaka, Fumiaki, Nakata, Yasuhiro, Isozaki, Eiji
المصدر: Frontiers in Neurology ; volume 12 ; ISSN 1664-2295
مصطلحات موضوعية: Neurology (clinical), Neurology