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1دورية أكاديمية
المؤلفون: Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
مصطلحات موضوعية: Neurodevelopmental disorder, Intellectual disability, Epileptic encephalopathy, Autism spectrum disorder, Rare disease, De novo variant, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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3دورية أكاديمية
المؤلفون: Ryosuke Miyamoto, Jun Sada, Koki Ota, Kenitiro Kaneko, Hironori Kusano, Yoshiteru Azuma, Akihisa Okumura
المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-4 (2021)
مصطلحات موضوعية: Neonatal intrahepatic cholestasis caused by citrin deficiency, Fatty liver, Genetic analysis, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2431Test
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4دورية أكاديمية
المؤلفون: Akihisa Okumura, Hirofumi Komaki, Kaori Irahara, Kazuhiro Shiraishi, Masayuki Sasaki, Ryoko Honda, Tomohiko Nakata, Yasushi Ohya, Yoshiteru Azuma, Yuu Kobayashi, 中田 智彦, 佐々木 征行, 大矢 寧, 奥村 彰久, 小林 悠, 小牧 宏文, 本田 涼子, 東 慶輝, 白石 一浩, 苛原 香
المصدر: 脳と発達 / NO TO HATTATSU. 2012, 44(6):450
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5دورية أكاديمية
المؤلفون: Ikuko YAIRI, Masamitsu TAKANO, Minoru KAMATA, Motoki SHINO, Yoshiteru AZUMA, 小竹 元基, 東 佳輝, 矢入 郁子, 鎌田 実, 高野 将充
المصدر: The Proceedings of the Transportation and Logistics Conference. 2008, :349
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المؤلفون: Motoya Kimura, Yoshiteru Azuma, Soutarou Taguchi, Mizuki Takagi, Hiromitsu Mori, Yasuto Shimomura, Jun-Ichi Niwa, Manabu Doyu, Akihisa Okumura
المصدر: Brain and Development. 44:343-346
مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ae0f2e520aa98e9e87bd1205911e0f7bTest
https://doi.org/10.1016/j.braindev.2022.01.003Test -
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المؤلفون: Shin Nabatame, Junpei Tanigawa, Koji Tominaga, Kuriko Kagitani-Shimono, Keiko Yanagihara, Katsumi Imai, Toru Ando, Yu Tsuyusaki, Nami Araya, Mayumi Matsufuji, Jun Natsume, Kotaro Yuge, Drago Bratkovic, Hiroshi Arai, Takeshi Okinaga, Takeshi Matsushige, Yoshiteru Azuma, Naoko Ishihara, Satoko Miyatake, Mitsuhiro Kato, Naomichi Matsumoto, Nobuhiko Okamoto, Satoru Takahashi, Satoshi Hattori, Keiichi Ozono
المصدر: Journal of the Neurological Sciences. 447:120597
مصطلحات موضوعية: Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f5b0ebbe3dbf9f9cfd0e90eebdae99e0Test
https://doi.org/10.1016/j.jns.2023.120597Test -
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المؤلفون: Yu Okai, Yoko Sakaguchi, Hiroyuki Kidokoro, Ayako Hattori, Hiroyuki Yamamoto, Atsuko Ohno, Yuji Ito, Naoko Ishihara, Masaharu Tanaka, Katsuhiko Kato, Tomoya Takeuchi, Tomohiko Nakata, Yoshiteru Azuma, Jun Natsume, Shin Nabatame
المصدر: Brain and Development. 43:69-77
مصطلحات موضوعية: Male, Deficiency syndrome, Adolescent, Monosaccharide Transport Proteins, Statistical parametric mapping, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Thalamus, Developmental Neuroscience, Fluorodeoxyglucose F18, Humans, Medicine, Child, Cerebral Cortex, Fluorodeoxyglucose, Glucose Transporter Type 1, medicine.diagnostic_test, business.industry, Brain, General Medicine, medicine.disease, Corpus Striatum, medicine.anatomical_structure, Cerebral cortex, Positron emission tomography, Child, Preschool, Positron-Emission Tomography, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), Radiopharmaceuticals, Differential diagnosis, business, Nuclear medicine, 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8443a09bc36e4751d49df6395b49a00Test
https://doi.org/10.1016/j.braindev.2020.07.001Test -
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المؤلفون: Masaki Miura, Akihiko Ishiyama, Hiromi Aoi, Akane Kondo, Fumiaki Tanaka, Hiroshi Handa, Yayoi Miyazono, Yuki Hyodo, Yukimi Oyoshi, Satoko Miyatake, Hitoshi Osaka, Naomichi Matsumoto, Kazuhiro Iwama, Lock-Hock Ngu, Tomohide Goto, Long Guo, Noriko Miyake, Naomi Tsuchida, Toshifumi Suzuki, Koichi Tanda, Eriko Koshimizu, Chong Ae Kim, Rachel Sayuri Honjo, Kohei Hamanaka, Tomohiro Sakaguchi, Muzhirah Haniffa, Sachiko Ohori, Yoko Hiraki, Hiromi Fukuda, Shin-ichiro Hamano, Mitsuhiro Kato, Ming Lei, Osamu Kawano, Atsushi Fujita, Ch'ng Gaik Siew, Takeshi Mizuguchi, Toshiyuki Itai, Futoshi Sekiguchi, Yuri Uchiyama, Tohru Okanishi, Takayoshi Koike, Débora Romeo Bertola, Eri Takeshita, Nobuhiko Okamoto, Kazuhiro Haginoya, Masahide Goto, Daisuke Yamaguchi, Hiroshi Matsumoto, Ken Saida, Nozomi Hiraishi, Manami Akasaka, Yoshihiro Maegaki, Shiro Ikegawa, Hiroshi Doi, Masamune Sakamoto, Tetsuya Okazaki, Yoshiyuki Ogawa, Atsushi Takata, Satoru Ikemoto, Yukitoshi Takahashi, Hiroyuki Yamada, Yoshiteru Azuma, Atsuro Daida, Keng Wee Teik
المصدر: Human Mutation. 42:50-65
مصطلحات موضوعية: Male, DNA Copy Number Variations, endocrine system diseases, Flow cell, Computational biology, Biology, Operational optimization, 03 medical and health sciences, Exome Sequencing, mental disorders, Genetics, Humans, Exome, Copy-number variation, Genetics (clinical), Selection (genetic algorithm), Likely pathogenic, Exome sequencing, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Female, Algorithms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617d9aaba2fb565839d5eb7e0bed396eTest
https://doi.org/10.1002/humu.24129Test -
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المؤلفون: Kohei Hamanaka, Satoru Takeda, Jun Takeda, Atsushi Fujita, Atsuo Itakura, Takeshi Mizuguchi, Shiori Takeuchi, Hiromi Aoi, Noriko Miyake, Toshifumi Suzuki, Naomichi Matsumoto, Yoshiteru Azuma, Rie Seyama, Eriko Koshimizu, Yuri Uchiyama, Satoko Miyatake, Yuka Yamamoto, Atsushi Takata, Shintaro Makino, Satomi Mitsuhashi, Yojiro Maruyama
المصدر: Journal of Human Genetics. 66:499-507
مصطلحات موضوعية: 0301 basic medicine, Fetus, business.industry, 030105 genetics & heredity, Biology, medicine.disease, Bioinformatics, Phenotype, Genetic analysis, 03 medical and health sciences, genomic DNA, 030104 developmental biology, Genetics, medicine, Copy-number variation, Ultrasonography, Trisomy, business, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1c3c80d6cd26c7f161e66332c9d2f165Test
https://doi.org/10.1038/s10038-020-00869-8Test