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1دورية أكاديمية
المؤلفون: Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada, Gen Nishimura
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)
مصطلحات موضوعية: Local osteodysplasia, Oral and maxillofacial bones, PCNT, Pericentrin, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jumpei Ito, Ryota Sugimoto, Hirofumi Nakaoka, Shiro Yamada, Tetsuaki Kimura, Takahide Hayano, Ituro Inoue
المصدر: PLoS Genetics, Vol 13, Iss 7, p e1006883 (2017)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Naoya Asakawa, Keisuke Uchida, Mamoru Sakakibara, Kazunori Omote, Keiji Noguchi, Yusuke Tokuda, Kiwamu Kamiya, Kanako C Hatanaka, Yoshihiro Matsuno, Shiro Yamada, Kyoko Asakawa, Yuichiro Fukasawa, Toshiyuki Nagai, Toshihisa Anzai, Yoshihiko Ikeda, Hatsue Ishibashi-Ueda, Masanori Hirota, Makoto Orii, Takashi Akasaka, Kenta Uto, Yasushige Shingu, Yoshiro Matsui, Shin-Ichiro Morimoto, Hiroyuki Tsutsui, Yoshinobu Eishi
المصدر: PLoS ONE, Vol 12, Iss 7, p e0179980 (2017)
وصف الملف: electronic resource
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المؤلفون: Eriko Ochiai, Motoki Osawa, Shinichi Matsuda, Kazumi Takahashi, Hiroyuki Mochizuki, Yuko Ohnuki, Kenji Okami, Masahiro Iida, Shiro Yamada, Mayuri Okami
المصدر: Human Genome Variation, Vol 7, Iss 1, Pp 1-4 (2020)
Human Genome Variationمصطلحات موضوعية: Proband, lcsh:QH426-470, Genetic counseling, lcsh:Life, 030204 cardiovascular system & hematology, Gene mutation, Compound heterozygosity, Biochemistry, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Data Report, Genetics, medicine, cardiovascular diseases, Molecular Biology, 030304 developmental biology, 0303 health sciences, Genetic counselling, Disease genetics, business.industry, medicine.disease, Phenotype, lcsh:Genetics, lcsh:QH501-531, Jervell and Lange-Nielsen syndrome, Mutation (genetic algorithm), medicine.symptom, business
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المؤلفون: Satoshi Narumi, Hirosuke Inoue, Masanori Adachi, Masakazu Miyawaki, Asumi Higa, Toshiro Hara, Maki Fukami, Tomonobu Hasegawa, Naomichi Matsumoto, Tadamune Kinjo, Yukichi Tanaka, Hiroyuki Hamada, Hironaka Urano, Naoko Amano, Kenji Ihara, Jun Kudoh, Ryuji Fukuzawa, Kenichi Miyako, Tomohiro Ishii, Saori Kinjo, Shinsuke Shibata, Takahiro Okutani, Atsushi Shimizu, Noriko Miyake, Tetsuya Yamaguchi, Minako Kihara, Shiro Yamada, Koji Muroya, Noriyuki Katsumata, Hiroyuki Kitajima, Katsuaki Toyoshima, Zenro Kizaki, Miyuki Kohno, Koji Tsugawa, Manabu Kenmochi, Yosuke Kitagawa, Shouichi Ohga, Kentaro Shiga, Hideyuki Okano
المصدر: Nature Genetics. 48:792-797
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Endosomes, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Enteropathy, Child, Growth Disorders, Exome sequencing, Late endosome, Chromosome 7 (human), Mutation, Adrenal hypoplasia, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Middle Aged, medicine.disease, Molecular biology, Pedigree, ErbB Receptors, Phenotype, 030104 developmental biology, Endocrinology, Hypoadrenocorticism, Familial, Myelodysplastic Syndromes, 030220 oncology & carcinogenesis, Female, DAX1, Chromosomes, Human, Pair 7, Adrenal Insufficiency, Congenital disorder
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المؤلفون: Shogo Minamikawa, China Nagano, Tomohiko Yamamura, Kandai Nozu, Motoko Yanagita, Koichi Nakanishi, Hiroshi Kaito, Takeshi Ninchoji, Eihiko Takahashi, Kazumoto Iijima, Yoshimitsu Gotoh, Naoya Morisada, Shuichiro Fujinaga, Ichiro Morioka, Takahiro Morishita, Masafumi Oka, Shiro Yamada, Igor Vorechovsky
المصدر: Journal of Human Genetics. 62:733-735
مصطلحات موضوعية: Collagen Type IV, 0301 basic medicine, medicine.medical_specialty, Interspersed repeat, 030232 urology & nephrology, Nephritis, Hereditary, Retrotransposon, Biology, 03 medical and health sciences, 0302 clinical medicine, Leiomyomatosis, otorhinolaryngologic diseases, Genetics, medicine, Humans, Alport syndrome, Genetics (clinical), Base Sequence, Breakpoint, Cytogenetics, medicine.disease, Molecular biology, 030104 developmental biology, Human genome, Homologous recombination, Gene Deletion
وصف الملف: text
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7
المؤلفون: Mamoru Sakakibara, Kiwamu Kamiya, Hiroyuki Tsutsui, Shiro Yamada, Nagara Tamaki, Keiji Noguchi, Keiichiro Yoshinaga, Takashi Yoshitani, Yusuke Tokuda, Osamu Manabe, Naoya Asakawa
المصدر: Journal of Nuclear Cardiology
مصطلحات موضوعية: Male, Sympathetic Nervous System, Apnea, Polysomnography, 030204 cardiovascular system & hematology, Single-photon emission computed tomography, Multimodal Imaging, Ventricular Function, Left, 030218 nuclear medicine & medical imaging, Iodine Radioisotopes, 0302 clinical medicine, cardiac sympathetic nerve function, Natriuretic Peptide, Brain, Medicine, Carbon Radioisotopes, adaptive servo-ventilation, Ephedrine, Carbon Isotopes, Ejection fraction, medicine.diagnostic_test, 123I-metaiodobenzylguanidine, Mediastinum, Middle Aged, Brain natriuretic peptide, 11C-hydroxyephedrine, 3-Iodobenzylguanidine, medicine.anatomical_structure, Echocardiography, embryonic structures, Cardiology, Original Article, Female, Cardiology and Cardiovascular Medicine, Cardiac function curve, Adult, medicine.medical_specialty, animal structures, tomography, 03 medical and health sciences, Adrenergic Agents, Sleep Apnea Syndromes, Internal medicine, Humans, Radiology, Nuclear Medicine and imaging, Aged, Heart Failure, Tomography, Emission-Computed, Single-Photon, business.industry, Therapeutic effect, medicine.disease, Respiration, Artificial, Heart failure, Positron-Emission Tomography, business, Tomography, X-Ray Computed
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المؤلفون: Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki
المصدر: American Journal of Medical Genetics Part A. 173
مصطلحات موضوعية: Genetics, Genetics (clinical)
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9
المؤلفون: Kiwamu Kamiya, Naoya Asakawa, Yasuka Kikuchi, Mamoru Sakakibara, Hiroyuki Iwano, Takashi Yoshitani, Osamu Manabe, Hiroyuki Tsutsui, Shiro Yamada, Satoru Chiba, Hiroshi Komatsu, Masanao Naya, Koji Oba, Noriko Oyama-Manabe, Satoshi Yamada
المصدر: Circulation Journal. 78:2468-2476
مصطلحات موضوعية: Male, medicine.medical_specialty, Coronary Artery Disease, Fractional flow reserve, Single-photon emission computed tomography, Coronary artery disease, Myocardial perfusion imaging, Internal medicine, medicine, Humans, Prospective Studies, Aged, Tomography, Emission-Computed, Single-Photon, medicine.diagnostic_test, Receiver operating characteristic, business.industry, Coronary Stenosis, General Medicine, Middle Aged, medicine.disease, Coronary arteries, Stenosis, medicine.anatomical_structure, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Magnetic Resonance Angiography, Emission computed tomography, Echocardiography, Stress
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df30db4de8dc4edd1a59b22d900ba2db
https://doi.org/10.1253/circj.cj-13-1454 -
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المؤلفون: Kandai, Nozu, Kazumoto, Iijima, Toru, Igarashi, Shiro, Yamada, Jana, Kralovicova, Yoshimi, Nozu, Tomohiko, Yamamura, Shogo, Minamikawa, Ichiro, Morioka, Takeshi, Ninchoji, Hiroshi, Kaito, Koichi, Nakanishi, Igor, Vorechovsky
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: splicing, Clinical Report, transposon, RNA, COL4A5, deletion, exon, LINE‐1, branch site, Clinical Reports, Alport syndrome