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1دورية أكاديمية
المؤلفون: Tsukasa Naganuma, Toshiyuki Imasawa, Ikuo Nukui, Masakiyo Wakasugi, Hiroshi Kitamura, Yukiko Yatsuka, Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Yoshimi Jinguji
المصدر: Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100963- (2023)
مصطلحات موضوعية: Focal segmental glomerulosclerosis, Mitochondrial nephropathy, NADH dehydrogenase 5, Podocyte, Case report, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, Yuko Akioka, Akira Ohtake
المصدر: Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100966- (2023)
مصطلحات موضوعية: M.12207G > A MT-TS2, Deafness, Epilepsy, Diabetes mellitus, Maternal inheritance, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Toshiyuki Imasawa, Hiroshi Kitamura, Takehiko Kawaguchi, Yukiko Yatsuka, Yasushi Okazaki, Kei Murayama
المصدر: Heliyon, Vol 9, Iss 4, Pp e14923- (2023)
مصطلحات موضوعية: Case report, Mitochondrial nephropathy, MT-TL1, m.3243A>G mutation, Heteroplasmy, Taurine, Science (General), Q1-390, Social sciences (General), H1-99
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100912- (2022)
مصطلحات موضوعية: Spinal cord hypoplasia, ATAD3, Biallelic deletion, Neonate, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديميةPrenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
المؤلفون: Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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6دورية أكاديمية
المؤلفون: Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Miyuki Watanabe, Shiho Aoki, Ikuko Sato-Shirai, Keiko Ichimoto, Takuya Fushimi, Kei Murayama, Akira Ohtake, Masakazu Kohda, Yoshihito Kishita, Yukiko Yatsuka, Shumpei Uchino, Masakazu Mimaki, Noriko Miyake, Naomichi Matsumoto, Yasushi Okazaki, Tomomi Ogata, Takanori Yamagata, Kazuhiro Muramatsu
المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100809- (2021)
مصطلحات موضوعية: Short-chain enoyl-CoA hydratase deficiency, Leigh syndrome, Diet therapy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu
المصدر: Heliyon, Vol 7, Iss 8, Pp e07804- (2021)
مصطلحات موضوعية: ADH5/ALDH/ADGRV1 variants, Myelodysplastic syndrome, Trigenic mutations, Trio-next generation sequencing, Usher syndrome, Science (General), Q1-390, Social sciences (General), H1-99
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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9دورية أكاديمية
المؤلفون: Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
مصطلحات موضوعية: cristae, MICOS complex, mitochondrial disease, mitochondrial DNA depletion syndrome, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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10دورية أكاديمية
المؤلفون: Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki
المصدر: PLoS Genetics, Vol 12, Iss 1, p e1005679 (2016)
وصف الملف: electronic resource