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1دورية أكاديمية
المؤلفون: Tomoki Kosho, Shujiro Hayashi, Ken-ichi Matsumoto, Delfien Syx, Anupriya Kaur
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: Ehlers-Danlos syndrome, heritable connective tissue disorders (HCTD), clinical, pathophysiological, collagen, delineation, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Takaya Iida, Arisa Igarashi, Kae Fukunaga, Taiga Aoki, Tomomi Hidai, Kumiko Yanagi, Masahiko Yamamori, Kazuhito Satou, Hayato Go, Tomoki Kosho, Ryuto Maki, Takashi Suzuki, Yohei Nitta, Atsushi Sugie, Yoichi Asaoka, Makoto Furutani-Seiki, Tetsuaki Kimura, Yoichi Matsubara, Tadashi Kaname
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: RRAS2, Noonan-like phenotype, functional analysis, Ras/mapk signaling pathway, pathogenic variants, gain-of-function, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديميةLysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
المؤلفون: Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima
المصدر: JIMD Reports, Vol 64, Iss 6, Pp 410-416 (2023)
مصطلحات موضوعية: Fanconi syndrome, lysinuric protein intolerance, renal tubular acidosis, SLC7A7, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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4دورية أكاديمية
المؤلفون: Katsuya Nakamura, Saki Mukai, Yuka Takezawa, Yuika Natori, Akari Miyazaki, Yuichiro Ide, Mayu Takebuchi, Kana Nanato, Mizuki Katoh, Harue Suzuki, Akiko Sakyu, Tomomi Kojima, Emiko Kise, Hiroaki Hanafusa, Tomoki Kosho, Koichiro Kuwahara, Yoshiki Sekijima
المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100983- (2023)
مصطلحات موضوعية: Fabry disease, Mulberry body, Mulberry cell, Targeted genetic approach, GLA, Accuracy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Futoshi Muranaka, Emiko Kise, Shigeo Tokumaru, Masato Kitazawa, Yusuke Miyagawa, Tomoaki Suga, Takeshi Uehara, Mai Iwaya, Shota Kobayashi, Midori Sato, Daisuke Gomi, Hidetaka Yamada, Haruhiko Sugimura, Tomoki Kosho, Yuji Soejima, Tomonobu Koizumi
المصدر: Discover Oncology, Vol 14, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Hereditary Diffuse Gastric Cancer, E-cadherin, CDH1 mutations, Signet ring cell carcinoma, Esophagogastroduodenoscopy, Random and target biopsies, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2730-6011
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6دورية أكاديمية
المؤلفون: Tomomi Yamaguchi, Kazuo Yamada, So Nagai, Toshiya Nishikubo, Norimichi Koitabashi, Masako Minami-Hori, Masaaki Matsushima, Yuka Shibata, Hiroki Ishiguro, Hiromi Sanai, Tomomi Fujikawa, Yuri Takiguchi, Ken-Ichi Matsumoto, Tomoki Kosho
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: Ehlers-Danlos syndrome, classical-like, TNXB, tenascin-X, connective tissue disorder, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Satoko Ishikawa, Shujiro Hayashi, Toshimi Sairenchi, Manabu Miyamoto, Shigemi Yoshihara, Gen Kobashi, Tomomi Yamaguchi, Tomoki Kosho, Ken Igawa
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: vascular Ehlers-Danlos syndrome, COL3A1, collagen III, endoplasmic reticulum stress, unfolded protein response, collagen fibril, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Mari Minatogawa, Taichi Tsuji, Mie Inaba, Noriaki Kawakami, Seiji Mizuno, Tomoki Kosho
المصدر: Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2054-345X
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9دورية أكاديمية
المؤلفون: Tomohiro Ishii, Masaki Takagi, Keisuke Nagasaki, Toshio Ohara, Kentaro Miyai, Tomoki Kosho, Fumio Takada, Gen Nishimura, Tomonobu Hasegawa
المصدر: Endocrines, Vol 3, Iss 3, Pp 428-432 (2022)
مصطلحات موضوعية: hypochondroplasia, FGFR3, genotype, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Tomomi Yamaguchi, Shujiro Hayashi, So Nagai, Akihiko Uchiyama, Sei-Ichiro Motegi, Tomomi Fujikawa, Yuri Takiguchi, Tomoki Kosho
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: Ehlers-Danlos Syndrome, classical-like EDS type 2 (clEDS2), adipocyte enhancer binding protein 1 (AEBP1), aortic carboxypeptidase-like protein (ACLP), autosomal recessive, connective tissue disorders, Genetics, QH426-470
وصف الملف: electronic resource