المؤلفون: Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa

المصدر: Human Genome Variation, Vol 11, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/579336588e8c47108ed93556271982f1

المؤلفون: Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817

المؤلفون: Eri Imagawa, George A. Diaz, Kimihiko Oishi

المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100619- (2020)

مصطلحات موضوعية: Citrullinemia type I, Argininosuccinate synthase, ASS1 gene, Non-coding region, Microdeletion, Luciferase reporter assay, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300653; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/190575ff192f4979833d0503ffb262be

المؤلفون: Ken Higashimoto, Feifei Sun, Eri Imagawa, Ken Saida, Noriko Miyake, Satoshi Hara, Hitomi Yatsuki, Musashi Kubiura-Ichimaru, Atsushi Fujita, Takeshi Mizuguchi, Naomichi Matsumoto, Hidenobu Soejima

المصدر: Journal of Medical Genetics; Jun2024, Vol. 61 Issue 6, p590-5, 12p

المؤلفون: Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto

المصدر: Clinical Genetics. 103:383-391

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::129490125282e228fe0db8c0ccbfdae9
https://doi.org/10.1111/cge.14296

المؤلفون: Daisuke Sawada, Tadashi Shiohama, Katsunori Fujii, Noriko Miyake, Naomichi Matsumoto, Eri Imagawa, Tomohiko Ichikawa, Hiromi Aoyama, Sachiko Naito

المصدر: Brain and Development. 43:798-803

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, General Medicine, Corpus callosum, medicine.disease, Pons, Hypotonia, Hyperintensity, White matter, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Basal ganglia, Medicine, Neurology (clinical), Brainstem, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bbcefbb455a9fb1d288d0c59688816f6
https://doi.org/10.1016/j.braindev.2021.03.008

المؤلفون: Kimihiko Oishi, Casey Siegel, Emalyn E Cork, Eri Imagawa, Hongjie Chen

المصدر: Journal of Human Genetics. 66:321-325

مصطلحات موضوعية: 0301 basic medicine, business.industry, Physiology, 030105 genetics & heredity, Hypoglycemia, medicine.disease, 03 medical and health sciences, 030104 developmental biology, PCK1, Inborn error of metabolism, Lactic acidosis, Genetics, medicine, Transaminitis, Missense mutation, Phosphoenolpyruvate carboxykinase, business, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::70671c2a3928c41613b3ee38fde6231b
https://doi.org/10.1038/s10038-020-00823-8

المؤلفون: Yohane Miyata, Yonehiro Kanemura, Yuri Uchiyama, Fumihito Nozaki, Fumikatsu Nohara, Satomi Mitsuhashi, Satoshi Hada, Akihito Takeuchi, Fumihiko Ishida, Fumitaka Yoshioka, Hiroshi Terashima, Jiu Okuno-Yuguchi, Hirotomo Saitsu, Tadayuki Kumagai, Hidetoshi Taniguchi, Hiroshi Doi, Atsushi Takata, Atsuko Harada, Shinji Saitoh, Hitoshi Osaka, Eri Imagawa, Yusuke Mitani, Ayako Hattori, Yasuji Kitabatake, Koichi Tanda, Jun-ichi Takanashi, Atsushi Fujita, Hiroshi Arai, Ichiro Kuki, Makoto Kinoshita, Chikako Ogawa, Toshiyuki Itai, Yoshinori Tsurusaki, Yoshihiko Saito, Noriko Togashi, Noriko Miyake, Mazumi Miura, Hiroyuki Higashiyama, Masayasu Ohta, Yoshiichi Abe, Tetsuhiro Fukuyama, Yusuke Yachi, Tomoko Tandou, Etsuko Miyagi, Satoko Kumada, Shoko Shimokawa, Naomichi Matsumoto, Yuko Takei, Keiko Hirano, Satori Hirai, Keiichi Ozono, Yukihiro Kitai, Yuichi Takami, Mitsuo Motobayashi, Ryoko Honda, Masafumi Morimoto, Takaaki Nakano, Yuki Maki, Satoko Miyatake, Akihiko Ishiyama, Tatsuya Fukasawa, Mitsuhiro Kato, Yoshiteru Azuma, Robert Smigiel, Yushi Noguchi, Tsuyoshi Omi, Kohei Hamanaka, Naoki Ando, Masataka Taguri, Takeshi Mizuguchi, Chizuru Seiwa, Mitsuko Nakashima, Eriko Koshimizu, Shin Nabatame, Teruyuki Ishikura

المصدر: Journal of Medical Genetics. 58:505-513

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurology, Obstetrics, business.industry, Gestational age, medicine.disease, Posterior fossa abnormalities, Porencephaly, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Obstetrics and gynaecology, Schizencephaly, Genetics, medicine, Gestation, business, 030217 neurology & neurosurgery, Genetics (clinical), Ventriculomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f2dd2760375d155949c433d65a592c68
https://doi.org/10.1136/jmedgenet-2020-106896

المؤلفون: Marianne Graber, Eri Imagawa, Satoko Miyatake, Denis Graber, Bertrand Isidor, Noriko Miyake, Naomichi Matsumoto

المساهمون: Hôpital Saint-Louis de La Rochelle (CH La Rochelle), Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, LIttoral ENvironnement et Sociétés - UMRi 7266 (LIENSs), Université de La Rochelle (ULR)-Centre National de la Recherche Scientifique (CNRS), CHU Nantes Service de génétique médicale, Unité de Génétique clinique

المصدر: Brain and Development
Brain and Development, Elsevier, 2021, ⟨10.1016/j.braindev.2021.09.009⟩

مصطلحات موضوعية: Ataxia, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Channelopathy, Neuroimaging, Polymicrogyria, Medicine, Exome sequencing, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, General Medicine, Paroxysmal dyskinesia, medicine.disease, 3. Good health, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cerebral cortex, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, Neuroscience, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73dae4f2c8cfdc72f122234371cac18e
https://hal.archives-ouvertes.fr/hal-03467526

المؤلفون: T. Lerman Sagie, M. Weisz-Hubshman, Eri Imagawa, Alvit Veber, E. Banne, Naomichi Matsumoto, H. Meirson, Gali Heimer, Dorit Lev, S. Modai, Lina Basel-Salmon, Annick Raas-Rothschild, Dina Marek-Yagel, Osnat Konen, Nechama Shalva, Concetta Bormans, R. Michaelson-Cohen, Bruria Ben-Zeev, R. Beeri, Y. Shilon, Noam Shomron, Doron M. Behar, Shay Tzur, Naama Orenstein

المصدر: European Journal of Paediatric Neurology. 23:418-426

مصطلحات موضوعية: Male, WWOX, Yemen, Tumor suppressor gene, Compound heterozygosity, 03 medical and health sciences, Exon, 0302 clinical medicine, Intellectual Disability, 030225 pediatrics, medicine, Humans, Missense mutation, Genetic Association Studies, Exome sequencing, Genetics, business.industry, Tumor Suppressor Proteins, General Medicine, medicine.disease, Phenotype, Pedigree, WW Domain-Containing Oxidoreductase, Face, Jews, Mutation, Pediatrics, Perinatology and Child Health, Spinocerebellar ataxia, Female, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c490b16d1844fc6ee6685a14f688e0e3
https://doi.org/10.1016/j.ejpn.2019.02.003