المؤلفون: Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

المصدر: HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)

مصطلحات موضوعية: CUL3, intellectual disability, DNA methylation, episignature, NEDAUS, genotype-phenotype correlation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001209; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3

المؤلفون: Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka

المصدر: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/ffe1d7e0e5be43fbb438ced248d6a71b

المؤلفون: Kaoru Yamamoto, Shimpei Baba, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Masaki Iwasaki, Atsushi Fujita, Hiromi Fukuda, Takeshi Mizuguchi, Mitsuhiro Kato, Naomichi Matsumoto, Masayuki Sasaki

المصدر: Epilepsia Open, Vol 8, Iss 2, Pp 651-658 (2023)

مصطلحات موضوعية: developmental and epileptic encephalopathy, heart rate changes, KCNT1, suppression‐burst, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/4bf0572bd2794c6e8eaab7b80c54c0bf

المؤلفون: Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, Naomichi Matsumoto

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/94a3131121604b75b7d26b0fca9cac45

المؤلفون: Gha-Hyun Lee, Eugene Jung, Na-Yeon Jung, Takeshi Mizuguchi, Naomichi Matsumoto, Eun-Joo Kim

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: NIID, neuronal intranuclear inclusion disease, perfusion, MRI, episodic neurological dysfunction, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1347646/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/24314a57876c429493804aaed050c752

المؤلفون: Kazuo Kodama, MD, Hiromi Aoyama, MD, PhD, Yoshimi Murakami, MD, Jun-ichi Takanashi, MD, PhD, Eriko Koshimizu, PhD, Satoko Miyatake, MD, PhD, Kazuhiro Iwama, MD, PhD, Takeshi Mizuguchi, MD, PhD, Naomichi Matsumoto, MD, PhD, Taku Omata, MD, PhD

المصدر: Radiology Case Reports, Vol 18, Iss 3, Pp 1217-1220 (2023)

مصطلحات موضوعية: Leukoencephalopathy with calcifications and cysts (LCC), SNORD118, Cerebroretinal microangiopathy with calcification and cysts (CRMCC), Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043322010172; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/b22a1a9a07024e1ead5eaf1d2c102d44

المؤلفون: Atsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, Yasushi Iimura, Hiroharu Suzuki, Jun Tohyama, Masafumi Fukuda, Yosuke Ito, Shimpei Baba, Tohru Okanishi, Hideo Enoki, Ayataka Fujimoto, Akiyo Yamamoto, Kentaro Kawamura, Shinsuke Kato, Ryoko Honda, Tomonori Ono, Hideaki Shiraishi, Kiyoshi Egawa, Kentaro Shirai, Shinji Yamamoto, Itaru Hayakawa, Hisashi Kawawaki, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akiyoshi Kakita, Naomichi Matsumoto

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Focal cortical dysplasia, LEATs, mTOR, RAS/MAPK, Somatic variants, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/6d39077dbc52426b8b9d6e2a39958a82

المؤلفون: Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/5f0d682f4c2d4892ad0ade18f7ec2c5c

المؤلفون: Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto

المصدر: Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/1d597910dd414d9c945f428b1ac217a6

المؤلفون: Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/5c4b0d3d0ea14f9fa7378606182803e5

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

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/212f0ca078af48c5b6f2a1dc43fa5a9d

المؤلفون: Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f

المؤلفون: Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato

المصدر: Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)

مصطلحات موضوعية: comorbidity, Doose syndrome, HNRNPU, SLC6A1, STS, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/17efe75a57e94761b422dbd148928d15

المؤلفون: Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-1 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/00d5b56809514356b2e67bc588e95ba7

المؤلفون: Yuta Asakura, Hitoshi Osaka, Hiromi Aoi, Takeshi Mizuguchi, Naomichi Matsumoto, Takanori Yamagata

المصدر: Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/63d19bbcd17e4d5884dca79bdaf176ca

المؤلفون: Akihiro Kawata, Akinori Uruha, Eiji Isozaki, Hiroshi Yoshihashi, Ichizo Nishino, Kazuhito Miyamoto, Keizo Sugaya, Naohiro Egawa, Naomichi Matsumoto, Shinsuke Tobisawa, Takashi Komori, Takeshi Mizuguchi, Tomoya Kawazoe, Yu-ichi Goto

المصدر: Internal Medicine. 2022, 61(4):547

المؤلفون: Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto

المصدر: BMC Neurology, Vol 19, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Whole-exome sequencing, NUS1, Epilepsy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-019-1489-x; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/34287c8170fb446fa293db36da0f8b22

المؤلفون: 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

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817

المؤلفون: Naomi Tsuchida, Yohei Kirino, Yutaro Soejima, Masafumi Onodera, Katsuhiro Arai, Eiichiro Tamura, Takashi Ishikawa, Toshinao Kawai, Toru Uchiyama, Shigeru Nomura, Daisuke Kobayashi, Masataka Taguri, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hideaki Nakajima, Satoko Miyatake, Naomichi Matsumoto

المصدر: Arthritis Research & Therapy, Vol 21, Iss 1, Pp 1-12 (2019)

مصطلحات موضوعية: TNFAIP3, Haploinsufficiency of A20, Behçet’s disease, Whole exome sequencing, Autoinflammatory, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13075-019-1928-5; https://doaj.org/toc/1478-6362

URL الوصول: https://doaj.org/article/5b72e897b94c48ec9e2095946e349f0a

المؤلفون: Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto

المصدر: Genome Biology, Vol 20, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: Tandem repeat, Repeat diseases, Long-read sequencing, Nanopore, PacBio, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-019-1667-6; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/375652e5b6a34ae1afdfc702a64030a5