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1دورية 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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2
المؤلفون: Nanako Omichi, Yoshihito Kishita, Mina Nakama, Hideo Sasai, Atsushi Terazawa, Emiko Kobayashi, Takuya Fushimi, Yohei Sugiyama, Keiko Ichimoto, Kazuhiro R. Nitta, Yukiko Yatsuka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
المصدر: Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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3
المؤلفون: Atsuko Imai‐Okazaki, Kazuhiro R. Nitta, Yukiko Yatsuka, Ayumu Sugiura, Masato Arao, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake, Kei Murayama, Yasushi Okazaki
المصدر: Journal of Inherited Metabolic Disease. 45:1143-1150
مصطلحات موضوعية: Mitochondrial Diseases, Genetics, Humans, Heteroplasmy, DNA, Mitochondrial, Genetics (clinical), Mitochondria
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4دورية أكاديمية
المؤلفون: Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R. Nitta, Yukiko Yatsuka, Atsuko Imai- Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
المصدر: Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p1005-1015, 24p
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5
المؤلفون: Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki, Kei Murayama
المصدر: Mitochondrion. 63:1-8
مصطلحات موضوعية: Mitochondrial Encephalomyopathies, Mutation, Humans, Molecular Medicine, Cell Biology, Leigh Disease, Heteroplasmy, DNA, Mitochondrial, Molecular Biology, Probability
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6
المؤلفون: Masaru Takada, Daisuke Fukuhara, Toshihiko Takiura, Yukino Nishibori, Masashi Kotani, Zentaro Kiuchi, Akihiko Kudo, Olga Beltcheva, Noriko Ito‐Nitta, Kazuhiro R. Nitta, Toru Kimura, Jun‐Ichi Suehiro, Tomohisa Katada, Hiromu Takematsu, Kunimasa Yan
المصدر: The FASEB Journal. 37
مصطلحات موضوعية: Male, Mice, Semen, Genetics, Animals, Estrogens, Spermatogenesis, Glucocorticoids, Spermatids, Molecular Biology, Biochemistry, Biotechnology
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7
المؤلفون: Tomohiro Ebihara, Yohei Sugiyama, Taro Nagatomo, Keiko Ichimoto, Makiko Tajika, Minako Ogawa-Tominaga, Nana Akiyama, Yasushi Okazaki, Kei Murayama, Atsuko Imai-Okazaki, Takuya Fushimi, Yukiko Yatsuka, Masaru Shimura, Kazuhiro R. Nitta, Yoshiteru Osone, Tetsuro Matsuhashi, Yoshihito Kishita, Akira Ohtake, Tomoko Tsuruoka, Ayako Matsunaga
المصدر: Archives of Disease in Childhood - Fetal and Neonatal Edition. 107:329-334
مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, business.industry, Mitochondrial disease, Infant, Newborn, Cardiomyopathy, Obstetrics and Gynecology, Retrospective cohort study, General Medicine, Neonatal onset, Disease, Prognosis, medicine.disease, DNA, Mitochondrial, Mitochondrial respiratory chain, Internal medicine, Mutation, Pediatrics, Perinatology and Child Health, medicine, Etiology, Humans, Leigh Disease, business
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8
المؤلفون: Takuya Fushimi, Atsuhito Takeda, Shuko Nojiri, Hiroko Harashima, Kazuhiro R. Nitta, Masakazu Kohda, Ayako Matsunaga, Yasushi Okazaki, Yasushi Sakata, Akira Ohtake, Minako Ogawa-Tominaga, Makiko Tajika, Tetsuro Matsuhashi, Akihiro Nakaya, Tomoko Hirata, Yohei Sugiyama, Ayumu Sugiura, Kei Murayama, Tomohiro Ebihara, Keiko Ichimoto, Atsuko Imai-Okazaki, Masaru Shimura, Yoshihito Kishita, Yukiko Yatsuka, Tomoko Tsuruoka, Shigetoyo Kogaki
المصدر: International Journal of Cardiology. 341:48-55
مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, business.industry, Mitochondrial disease, Hazard ratio, Infant, Newborn, Cardiomyopathy, Neonatal onset, Prognosis, medicine.disease, Gastroenterology, Confidence interval, Muscle hypertrophy, Risk Factors, Internal medicine, medicine, Humans, Hypertrophy, Left Ventricular, Risk factor, Cardiomyopathies, Child, Cardiology and Cardiovascular Medicine, business, Genetic Background
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9
المؤلفون: Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R Nitta, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
المصدر: Journal of Medical Genetics. :jmg-2022
مصطلحات موضوعية: Genetics, Genetics (clinical)
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10
المؤلفون: Yasushi Okazaki, Fumihito Nozaki, Kazuhiro R. Nitta, Masaru Shimura, Luke E. Formosa, Akira Ohtake, Yoshihito Kishita, Kei Murayama, Yukiko Yatsuka, Michael T. Ryan, Tatsuya Fujii
المصدر: Clinical Genetics. 98:155-165
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Mitochondrial Diseases, Nuclear gene, Adolescent, Developmental Disabilities, Mitochondrial disease, 030105 genetics & heredity, Biology, NDUFA8, Gene Knockout Techniques, Young Adult, 03 medical and health sciences, Epilepsy, Complementary DNA, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Electron Transport Complex I, Homozygote, Infant, NADH Dehydrogenase, medicine.disease, Pathogenicity, MITOCHONDRIAL COMPLEX I DEFICIENCY, 030104 developmental biology, Child, Preschool