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المؤلفون: Chihiro Yonee, Shinsuke Maruyama, Mayumi Matsufuji, Nozomi Sano, Masanori Sato, Hiroshi Hosoyama, Ryosuke Hanaya
المصدر: Journal of the Japan Epilepsy Society. 40:541-547
مصطلحات موضوعية: Neurology, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::742e5aaa00930bf3c25dac09ed381e3a
https://doi.org/10.3805/jjes.40.541 -
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المؤلفون: Yukiko Kuroda, Mayumi Matsufuji, Yumi Enomoto, Hitoshi Osaka, Jun‐Ichi Takanashi, Toshiyuki Yamamoto, Yurika Numata‐Uematsu, Kenshiro Tabata, Kenji Kurosawa, Ken Inoue
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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3
المؤلفون: Shin Nabatame, Junpei Tanigawa, Koji Tominaga, Kuriko Kagitani-Shimono, Keiko Yanagihara, Katsumi Imai, Toru Ando, Yu Tsuyusaki, Nami Araya, Mayumi Matsufuji, Jun Natsume, Kotaro Yuge, Drago Bratkovic, Hiroshi Arai, Takeshi Okinaga, Takeshi Matsushige, Yoshiteru Azuma, Naoko Ishihara, Satoko Miyatake, Mitsuhiro Kato, Naomichi Matsumoto, Nobuhiko Okamoto, Satoru Takahashi, Satoshi Hattori, Keiichi Ozono
المصدر: Journal of the Neurological Sciences. 447:120597
مصطلحات موضوعية: Neurology, Neurology (clinical)
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4
المؤلفون: Eiko Takeshita, Sachio Takashima, Masayuki Nakashima, Hiromi Ishibashi, Yoriko Watanabe, Toshio Hanai, Mayumi Matsufuji, Kaori Fukui
المصدر: Brain and Development. 42:231-235
مصطلحات موضوعية: biology, Arginine, business.industry, Serum albumin, Hyperargininemia, Hyperammonemia, Sodium phenylbutyrate, General Medicine, Pharmacology, medicine.disease, Arginase, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Urea cycle, Pediatrics, Perinatology and Child Health, biology.protein, medicine, Neurology (clinical), business, ARG1, 030217 neurology & neurosurgery, medicine.drug
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المؤلفون: Ryutaro Kira, Kozue Kobayashi, Kyoko Hoshino, Tadashi Shiohama, Sachiko Miyamoto, Akio Ebata, Akira Hojo, Masayuki Furuyama, Hirotomo Saitsu, Nobuko Moriyama, Mitsuko Nakashima, Pin Fee Chong, Manabu Suzuki, Tatsuya Yamamoto, Takuya Hiraide, Hiroko Matsushita, Tomohide Goto, Mitsuhiro Kato, Hiroko Ikeda, Mayumi Matsufuji
المصدر: Journal of human genetics. 66(11)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, DNA Copy Number Variations, colpocephaly, Motor Disorders, 030105 genetics & heredity, Biology, Corpus callosum, Nervous System Malformations, Genetic analysis, whole exome sequencing, Congenital Abnormalities, Corpus Callosum, 03 medical and health sciences, Lateral ventricles, Colpocephaly, Young Adult, Japan, Intellectual Disability, Lateral Ventricles, Intellectual disability, Exome Sequencing, Genetics, medicine, Humans, Copy-number variation, Child, Genetics (clinical), Exome sequencing, Brain Diseases, Corpus callosum anomaly, Brain, medicine.disease, 030104 developmental biology, somatic mosaicism, Phenotype, Child, Preschool, Mutation, Etiology, Female, Agenesis of Corpus Callosum, copy number variants
وصف الملف: application/pdf
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المؤلفون: Toyojiro Matsuishi, Kotaro Yuge, Nozomi Sano, Yukako Yae, Chihiro Yonee, Tomoko Saikusa, Naomichi Matsumoto, Yushiro Yamashita, Takeshi Mizuguchi, Mayumi Matsufuji, Kazuhiro Iwama
المصدر: Brain and Development. 40:493-497
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Rett syndrome, medicine.disease_cause, MECP2, Frameshift mutation, Diagnosis, Differential, 03 medical and health sciences, Epilepsy, Munc18 Proteins, 0302 clinical medicine, Neurodevelopmental disorder, Japan, Developmental Neuroscience, Rett Syndrome, Humans, Medicine, STXBP1, Frameshift Mutation, Mutation, business.industry, West Syndrome, General Medicine, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
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المؤلفون: Ryuichi Mashima, Torayuki Okuyama, Keiko Shimojima, Toshiyuki Yamamoto, Mayumi Matsufuji, Eri Sakai
المصدر: Brain and Development. 39:422-425
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Aspartylglucosaminuria, Population, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Japan, Thalamus, Developmental Neuroscience, medicine, Humans, Exome, education, Gene, Exome sequencing, education.field_of_study, Aspartylglucosaminidase, Aspartylglucosylaminase, General Medicine, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Neurology (clinical), Developmental regression, 030217 neurology & neurosurgery
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المؤلفون: Kazunori Arita, Toshiyuki Yamamoto, Nayuta Higa, Keiko Shimojima, Nozomi Sano, Tatsuki Oyoshi, Hisashi Tsuru, Hiroshi Tokimura, Mayumi Matsufuji, Yumiko Ondo
المصدر: European Journal of Medical Genetics. 59:559-563
مصطلحات موضوعية: Heart Defects, Congenital, 0301 basic medicine, Pathology, medicine.medical_specialty, Prominent forehead, Developmental Disabilities, Karyotype, MAP Kinase Kinase 2, MAP2K2, 030105 genetics & heredity, Biology, Craniosynostosis, Craniosynostoses, 03 medical and health sciences, Ectodermal Dysplasia, Chromosome Duplication, Female patient, Genetics, medicine, Humans, Abnormalities, Multiple, In patient, Genetics (clinical), Facies, Infant, General Medicine, Synostosis, medicine.disease, Failure to Thrive, Phenotype, Palpebral fissure, Mutation, Female, CFC SYNDROME, Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 16
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المؤلفون: Kaori Tamura, Keiji Iramina, Sachio Takashima, Mayumi Matsufuji, Tsuyoshi Okamoto, Takaaki Mizuba
المصدر: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 34(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Physiology, medicine.medical_treatment, Leukomalacia, Periventricular, Alpha (ethology), Audiology, Electroencephalography, 050105 experimental psychology, Infant, Newborn, Diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Physiology (medical), Intellectual disability, medicine, Humans, 0501 psychology and cognitive sciences, Beta Rhythm, Cognitive Dysfunction, Young adult, Cerebral Hemorrhage, Rehabilitation, Periventricular leukomalacia, medicine.diagnostic_test, business.industry, 05 social sciences, Infant, Newborn, Cognition, medicine.disease, Alpha Rhythm, Neurology, Brain Injuries, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39629102d62fb63c79b5c1347f4a967
https://pubmed.ncbi.nlm.nih.gov/27763965 -
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المؤلفون: Leo Gotoh, Ken Inoue, Hitoshi Osaka, Mayumi Matsufuji, Hiroko Shimbo, Sachio Takashima
المصدر: Pediatric Neurology. 49:477-481
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Ataxia, DNA Mutational Analysis, Nystagmus, Dysarthria, Developmental Neuroscience, Spastic diplegia, medicine, Spastic, Humans, Myelin Proteolipid Protein, Sequence Deletion, Family Health, Genetics, Spastic Paraplegia, Hereditary, business.industry, Brain, Pelizaeus–Merzbacher disease, medicine.disease, Magnetic Resonance Imaging, nervous system diseases, Peripheral neuropathy, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Paraplegia