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1دورية أكاديمية
المؤلفون: Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda, Koichiro Higasa, Shinichiro Hayashi, Harumasa Nakamura, Masakazu Sekijima, Yukinori Okada, Satoru Noguchi, Ichizo Nishino
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino
المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
مصطلحات موضوعية: Duchenne and Becker muscular dystrophies, Genetic diagnosis, MLPA, Nucleotide sequencing, Medicine
وصف الملف: electronic resource
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المؤلفون: Michio Inoue, Jun Karashima, Utako Nagaoka, Ichizo Nishino, Kazushi Takahashi, Yasushi Oya, Asuka Funai, Kazuma Sugie, Mariko Okubo, Toshio Yasui, Kazuhito Miyamoto, Akinori Uruha, Keizo Sugaya, Shiro Matsubara
المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), National Center of Neurology and Psychiatry National Institute of Mental Health (NCNP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), National Center of Neurology and Psychiatry [Tokyo, Japan]
المصدر: Neuromuscular Disorders
Neuromuscular Disorders, 2021, 31 (11), pp.1207-1211. ⟨10.1016/j.nmd.2021.07.017⟩مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle weakness, medicine.disease, Left ventricular hypertrophy, Asymptomatic, Supraventricular extrasystole, Exon, Neurology, Pediatrics, Perinatology and Child Health, medicine, Danon disease, Neurology (clinical), medicine.symptom, business, Genetics (clinical), Retinopathy
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المؤلفون: Mariko Okubo, Astrid Brull, Isabelle Nelson, Maud Beuvin, Laura Julien, Valérie Paradis, Bertrand, Anne T., Gisèle Bonne
المساهمون: National Center of Neurology and Psychiatry National Institute of Mental Health (NCNP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de recherche biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gisèle Bonne, Ichizo Nishino
المصدر: 12th French-Japanese Workshop on Neuromuscular Diseases
12th French-Japanese Workshop on Neuromuscular Diseases, Gisèle Bonne; Ichizo Nishino, Sep 2022, Giverny, France
HALمصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Lamin A/C LMNA gene, laminopathies, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, gene therapy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8589fc0248e88c8795dbc20569d7ec71
https://hal.science/hal-03989233 -
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المؤلفون: Mariko, Okubo, Yoshinori, Kabeya, Ichizo, Nishino
المصدر: Brain and nerve = Shinkei kenkyu no shinpo. 74(8)
مصطلحات موضوعية: Deep Learning, Myositis, Artificial Intelligence, Biopsy, Muscles, Humans, Neural Networks, Computer, Algorithms
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::151fa0b5a6583becb03adee817564b8c
https://pubmed.ncbi.nlm.nih.gov/35941800 -
6دورية أكاديمية
المؤلفون: Asami Munekane, Yutaka Ohsawa, Mariko Okubo, Taiji Nagai, Hirotake Nishimura, Ichizo Nishino, Yoshihide Sunada
المصدر: Internal Medicine; 2023, Vol. 62 Issue 9, p1345-1349, 5p
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المؤلفون: Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9aae276abc71be95b910a4bbc1700357
https://doi.org/10.21203/rs.3.rs-1772868/v1 -
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المؤلفون: Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
المساهمون: National Center of Neurology and Psychiatry National Institute of Mental Health (NCNP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), National Center of Neurology and Psychiatry [Tokyo, Japan], Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Department of neurology, The University of Tokyo (UTokyo), Toneyama National Hospital
المصدر: Human Genetics
Human Genetics, 2022, ⟨10.1007/s00439-022-02485-2⟩مصطلحات موضوعية: [SDV]Life Sciences [q-bio], Genetics, Genetics (clinical)
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المؤلفون: Mariko Mouri, Toru Kanamori, Eriko Tanaka, Kanako Hiratoko, Mariko Okubo, Michio Inoue, Tomohiro Morio, Masaki Shimizu, Ichizo Nishino, Naoko Okiyama, Masaaki Mori
المصدر: Modern rheumatology case reports.
مصطلحات موضوعية: Rheumatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe1c7be7a8f59146185924b1ce91878
https://pubmed.ncbi.nlm.nih.gov/36416547 -
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المؤلفون: Takashi Kanda, Mariko Okubo, Yasuteru Sano, Mariko Oishi, Satoko Ota, Ichizo Nishino, Masaya Honda, Masatoshi Omoto, Motoharu Kawai
المساهمون: Yamaguchi University [Yamaguchi], National Center of Neurology and Psychiatry National Institute of Mental Health (NCNP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), National Center of Neurology and Psychiatry [Tokyo, Japan]
المصدر: Internal Medicine
Internal Medicine, 2022, 61 (10), pp.1587-1592. ⟨10.2169/internalmedicine.7733-21⟩مصطلحات موضوعية: Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], medicine.disease_cause, Exon, Japan, Muscular Diseases, Internal Medicine, medicine, Humans, Connectin, Respiratory system, Semitendinosus muscle, Myopathy, Muscle, Skeletal, Aged, Mutation, biology, business.industry, Genetic Diseases, Inborn, General Medicine, musculoskeletal system, Respiratory failure, biology.protein, Titin, medicine.symptom, Differential diagnosis, business, Respiratory Insufficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2beee547435423f2d2d9df5222a4b065
https://pubmed.ncbi.nlm.nih.gov/34670883