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1دورية أكاديمية
المؤلفون: Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: cardiofaciocutaneous syndrome, CFC syndrome, MAP2K1, epilepsy, neurodevelopmental disorders, drug-induced hypersensitivity syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Yusuke Noda, Jun Kido, Yohei Misumi, Keishin Sugawara, Sachiko Ohori, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
المصدر: Clinical Case Reports, Vol 11, Iss 9, Pp n/a-n/a (2023)
مصطلحات موضوعية: c.175C>T, developmental delay, general medicine, genetics and genomics, hypotonia, non‐epilepsy, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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3دورية 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
Relation: https://doaj.org/toc/1756-994X
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4دورية أكاديمية
المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-17 (2020)
مصطلحات موضوعية: Long read sequencing, Chromosomal translocations/rearrangements, Chromothripsis, Structural variation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
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5
المؤلفون: Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E.X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto
مصطلحات موضوعية: Dystonia, VMAT2, Brain monoamine vesicular transport disease, Dopamine agonist, SLC18A2, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40233c210f0a1535cbb0ddd886c14d67
https://hdl.handle.net/11454/79547 -
6دورية أكاديمية
المؤلفون: Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Lourenco, Charles Marques, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, Frith, Martin C., Rie Seyama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Kuniaki Saito
المصدر: Life Science Alliance; Aug2023, Vol. 6 Issue 8, p1-16, 16p
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7
المؤلفون: Satomi Mitsuhashi, Sachiko Ohori, Rie Tsuburaya, Martin C. Frith, Etsuko Miyagi, Takeshi Mizuguchi, Naomichi Matsumoto, Masako Kinoshita
المصدر: Journal of Human Genetics. 66:697-705
مصطلحات موضوعية: 0301 basic medicine, Genetics, Whole genome sequencing, Retrotransposon, 030105 genetics & heredity, Biology, medicine.disease, Genome, 03 medical and health sciences, Exon, 030104 developmental biology, Neurodevelopmental disorder, medicine, Haploinsufficiency, Gene, Exome, Genetics (clinical)
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8
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
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9
المؤلفون: Eli Heyman, Revital Ben-Haim, Satomi Mitsuhashi, Kazuhiro Ogata, Sachiko Ohori, Toru Sengoku, Naomichi Matsumoto
المصدر: Journal of Human Genetics. 65:481-485
مصطلحات موضوعية: Male, 0301 basic medicine, Mutation, Missense, macromolecular substances, GTPase, 030105 genetics & heredity, Biology, medicine.disease_cause, 03 medical and health sciences, Neurodevelopmental disorder, PAK1, Protein Domains, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Mutation, Epilepsy, Kinase, Macrocephaly, medicine.disease, Megalencephaly, Enzyme Activation, 030104 developmental biology, Amino Acid Substitution, p21-Activated Kinases, Neurodevelopmental Disorders, Postnatal macrocephaly, Protein Multimerization, medicine.symptom
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10
المؤلفون: Sachiko, Ohori, Rie S, Tsuburaya, Masako, Kinoshita, Etsuko, Miyagi, Takeshi, Mizuguchi, Satomi, Mitsuhashi, Martin C, Frith, Naomichi, Matsumoto
المصدر: Journal of human genetics. 66(7)
مصطلحات موضوعية: Adult, DNA-Binding Proteins, Male, Mutagenesis, Insertional, Retroelements, Whole Genome Sequencing, Neurodevelopmental Disorders, Humans, Exome, Genetic Predisposition to Disease, Haploinsufficiency
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