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1دورية أكاديمية
المؤلفون: Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: cardiofaciocutaneous syndrome, CFC syndrome, MAP2K1, epilepsy, neurodevelopmental disorders, drug-induced hypersensitivity syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Satomi Mitsuhashi, Sachiko Ohori, Rie Tsuburaya, Martin C. Frith, Etsuko Miyagi, Takeshi Mizuguchi, Naomichi Matsumoto, Masako Kinoshita
المصدر: Journal of Human Genetics. 66:697-705
مصطلحات موضوعية: 0301 basic medicine, Genetics, Whole genome sequencing, Retrotransposon, 030105 genetics & heredity, Biology, medicine.disease, Genome, 03 medical and health sciences, Exon, 030104 developmental biology, Neurodevelopmental disorder, medicine, Haploinsufficiency, Gene, Exome, Genetics (clinical)
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3
المؤلفون: Hiroaki Adachi, Rie Tsuburaya, Fumiaki Tanaka, Hiroshi Doi, Noriko Hayashi, Satomi Mitsuhashi, Masako Kinoshita, Hitaru Kishida, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Atsushi Fujita, Eriko Koshimizu, Yuri Uchiyama, Tomoko Toyota, Yosuke Kudo, Noriko Miyake, Naomichi Matsumoto, Naomi Tsuchida, Hiromi Fukuda, Mitsuhiro Kato, Tetsuhiro Fukuyama
المصدر: Brain : a journal of neurology. 144(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Benign adult familial myoclonic epilepsy, Epilepsies, Myoclonic, Nerve Tissue Proteins, Biology, Genome, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, CRISPR-Associated Protein 9, Humans, Allele, Polymerase chain reaction, Genetic Association Studies, Sequence (medicine), Southern blot, Aged, Genetics, Aged, 80 and over, DNA Repeat Expansion, Cas9, Sequence Analysis, DNA, Middle Aged, 030104 developmental biology, Female, Neurology (clinical), CRISPR-Cas Systems, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Microsatellite Repeats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daa52b825aff6f019d12853ab253a702
https://pubmed.ncbi.nlm.nih.gov/34037746 -
4
المؤلفون: Naoko Sakai, Souichi Mukaida, Hiroshi Uchizumi, Michio Ueda, Yutaka Demura, Kaori Irahara, Rie Tsuburaya, Kazuhiro Shiraishi, Shinji Sudou
المصدر: Neuromuscular Disorders. 24:402-408
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Echocardiography, Three-Dimensional, Ventricular Function, Left, Young Adult, Internal medicine, Humans, Medicine, Wall motion, Genetics (clinical), Cause of death, Ejection fraction, medicine.diagnostic_test, business.industry, Gated Blood-Pool Imaging, Three dimensional echocardiography, Dilated cardiomyopathy, medicine.disease, Muscular Dystrophy, Duchenne, medicine.anatomical_structure, Neurology, Ventricle, Pediatrics, Perinatology and Child Health, cardiovascular system, Cardiology, Feasibility Studies, Neurology (clinical), Radiology, Cardiac-Gated Single-Photon Emission Computer-Assisted Tomography, business, Emission computed tomography
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5
المؤلفون: Ikuko Sato-Shirai, Mitsugu Uematsu, Keisuke Wakusawa, Nobukazu Nakasato, Taro Kitamura, Kazuhiro Haginoya, Rie Tsuburaya, Tomoko Kobayashi, Noriko Togashi, Mamiko Ishitobi, Masaki Iwasaki, Tojo Nakayama, Naomi Hino-Fukuyo, Atsuo Kikuchi, Kazuie Iinuma, Mitsutoshi Munakata, Yu Abe, Yosuke Kakisaka, Yoko Matsumoto
المصدر: Brain and Development. 35:887-893
مصطلحات موضوعية: medicine.medical_specialty, Ictal-Interictal SPECT Analysis by SPM, Epilepsy, Developmental Neuroscience, medicine, Seizure control, Humans, In patient, Ictal, Tomography, Emission-Computed, Single-Photon, Spectroscopy, Near-Infrared, business.industry, Subtraction, Brain, Infant, West Syndrome, General Medicine, medicine.disease, nervous system diseases, Cerebral blood volume, Regional Blood Flow, Anesthesia, Pediatrics, Perinatology and Child Health, Neurology (clinical), Radiology, business, Spasms, Infantile
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6
المؤلفون: Rie Tsuburaya, Keita Kondo, Masayasu Matsumoto, Tetsuya Takahashi, Yoshito Nagano, Takemori Yamawaki, Ikuya Nonaka, Yu Yamazaki, Ichizo Nishino, Takashi Kurashige, Takeshi Nakamura, Yukiko K. Hayashi
المصدر: Neuromuscular Disorders. 23(11):911-916
مصطلحات موضوعية: Adult, Male, Vacuolar Proton-Translocating ATPases, medicine.medical_specialty, Urinary system, β2 Microglobulin, Muscle Fibers, Skeletal, Clinical Neurology, Vacuole, Biology, medicine.disease_cause, VMA21, Autophagic vacuole with sarcolemmal features (AVSF), X-linked myopathy with excessive autophagy, Asian People, Japan, Muscular Diseases, Internal medicine, medicine, Humans, Progressive proximal muscle weakness, Genetics(clinical), Pediatrics, Perinatology, and Child Health, X-linked myopathy with excessive autophagy (XMEA), Myopathy, Genetics (clinical), Mutation, Beta-2 microglobulin, Autophagy, Genetic Diseases, X-Linked, Middle Aged, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, beta 2-Microglobulin
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7
المؤلفون: Tatsuya Fujii, K. Takayama, Satomi Mitsuhashi, Souichi Mukaida, Je-Young Shin, Ichizo Nishino, Satoru Noguchi, Ikuya Nonaka, Rieko Tanaka, Rie Tsuburaya
المصدر: Neuromuscular disorders : NMD. 26(9)
مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Biology, medicine.disease_cause, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, Fatal Outcome, Muscular Diseases, medicine, Missense mutation, Humans, Myopathy, Genetics (clinical), Minicore myopathy, Genetic Association Studies, Genetics, Mutation, MEGF10, Membrane Proteins, Phenotype, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom
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8
المؤلفون: Yukiko K. Hayashi, Kanako Goto, Takefumi Furuya, Yasushi Kawaguchi, Ichizo Nishino, Tomoko Sugiura, Takahisa Gono, Hisashi Yamanaka, Rie Tsuburaya
المصدر: Annals of the Rheumatic Diseases. 71:1646-1650
مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Immunology, Single-nucleotide polymorphism, medicine.disease_cause, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Gastroenterology, Polymyositis, Dermatomyositis, General Biochemistry, Genetics and Molecular Biology, Autoimmunity, Asian People, Rheumatology, Risk Factors, Polymorphism (computer science), Internal medicine, Humans, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, Myositis, business.industry, Interstitial lung disease, Middle Aged, STAT4 Transcription Factor, medicine.disease, Connective tissue disease, Female, business
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9
المؤلفون: Atsuo Kikuchi, Mitsuhiro Kato, Rie Tsuburaya, Kazuhiro Haginoya, Naomi Hino-Fukuyo, Shigeru Tsuchiya, Shinji Kunishima, Mitsugu Uematsu
المصدر: American Journal of Medical Genetics Part A. :674-677
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Real-Time Polymerase Chain Reaction, Corpus callosum, Cataract, Central nervous system disease, Epilepsy, Dysgenesis, Japan, Periventricular Nodular Heterotopia, Genetics, medicine, Humans, FLNA, Genetics (clinical), Comparative Genomic Hybridization, business.industry, West Syndrome, medicine.disease, nervous system, Child, Preschool, Mutation, Congenital cataracts, Female, business, Comparative genomic hybridization
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10
المؤلفون: Rie Tsuburaya, Yukiko K. Hayashi, Ichizo Nishino, Takahiro Yonekawa, Satoru Noguchi, Ikuya Nonaka, Akinori Uruha
المصدر: Neurology. 86(3)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Male, medicine.medical_specialty, Hepatitis C virus, education, Comorbidity, medicine.disease_cause, Polymyositis, Myositis, Inclusion Body, 03 medical and health sciences, 0302 clinical medicine, Japan, Internal medicine, parasitic diseases, medicine, Prevalence, Humans, Myositis, Aged, business.industry, Case-control study, Odds ratio, Hepatitis C, Hepatitis C Antibodies, Middle Aged, medicine.disease, 030104 developmental biology, Case-Control Studies, Female, Neurology (clinical), Inclusion body myositis, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd98d1fc1f325f6f6a9e9c8ca9dd7dd4
https://pubmed.ncbi.nlm.nih.gov/26683644