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1دورية أكاديمية
المؤلفون: Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi
المصدر: JIMD Reports, Vol 63, Iss 6, Pp 529-535 (2022)
مصطلحات موضوعية: 5‐formyltetrahydrofolic acid, cerebral folate deficiency, folate receptor 1, folinic acid, Kearns‐Sayre syndrome, methylenetetrahydrofolate reductase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2دورية أكاديمية
المؤلفون: Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto
المصدر: Epilepsia Open, Vol 6, Iss 1, Pp 230-234 (2021)
مصطلحات موضوعية: epileptic encephalopathy, epileptic spasm, hypomyelination, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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3
المؤلفون: Hisashi Kawawaki, Ichiro Kuki, Mitsuko Nakashima, Takeshi Inoue, Naomichi Matsumoto, Megumi Nukui, Kiyohiro Kim, Shin Okazaki, Masataka Fukuoka
المصدر: Epilepsia Open, Vol 6, Iss 1, Pp 230-234 (2021)
Epilepsia Openمصطلحات موضوعية: Heterozygote, Pathology, medicine.medical_specialty, hypomyelination, Developmental Disabilities, Mutation, Missense, Kinesins, Preliminary Report, lcsh:RC346-429, Epilepsy, medicine, Humans, Preliminary Reports, Global developmental delay, Cerebrum, Exome sequencing, lcsh:Neurology. Diseases of the nervous system, business.industry, Infant, Electroencephalography, West Syndrome, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Hypsarrhythmia, Failure to Thrive, Epileptic spasms, epileptic encephalopathy, Neurology, epileptic spasm, Failure to thrive, Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, business, Spasms, Infantile
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4
المؤلفون: Hisashi Kawawaki, Ichiro Kuki, Megumi Nukui, Shinji Saitoh, Takeshi Inoue, Masataka Fukuoka, Yuji Nakamura, Kiyohiro Kim, Aya Hashimoto, Shin Okazaki
المصدر: Brain and Development. 41:625-629
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pes cavus, Cerebellar Ataxia, Foot Deformities, Congenital, Hearing Loss, Sensorineural, Thalamus, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Developmental Neuroscience, ATP1A3, Internal medicine, Humans, Medicine, Tomography, Emission-Computed, Single-Photon, Reflex, Abnormal, Cerebellar ataxia, business.industry, Infant, General Medicine, medicine.disease, Optic Atrophy, Phenotype, Cerebral blood flow, Cerebrovascular Circulation, Mutation, Pediatrics, Perinatology and Child Health, Cardiology, Female, Sensorineural hearing loss, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, medicine.symptom, business, 030217 neurology & neurosurgery, Truncal ataxia
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5
المؤلفون: Masao Togawa, Chiharu Yamairi, Ichiro Kuki, Kiyohiro Kim, Kiyoko Amo, Kenji Iwai, Masataka Fukuoka
المصدر: Brain and Development. 41:217-220
مصطلحات موضوعية: Male, Exocrine gland, Pathology, medicine.medical_specialty, Central nervous system, Hashimoto Disease, Diagnosis, Differential, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Seizures, medicine, Humans, Autoimmune disease, Autoimmune encephalitis, business.industry, Brain, General Medicine, medicine.disease, Sjogren's Syndrome, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Encephalitis, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery, Anti-SSA/Ro autoantibodies
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6
المؤلفون: Megumi Nukui, Yuka Hattori, Kiyohiro Kim, Masataka Fukuoka, Asako Horino, Hisashi Kawawaki, Ichiro Kuki, Shin Okazaki, Hitomi Tsuji
المصدر: Brain and Development. 39:252-255
مصطلحات موضوعية: medicine.medical_specialty, Hypesthesia, business.industry, medicine.medical_treatment, General Medicine, 030204 cardiovascular system & hematology, Hyperintensity, Surgery, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Acute Transverse Myelitis, Developmental Neuroscience, Anesthesia, Pediatrics, Perinatology and Child Health, Prednisolone, Medicine, Dysuria, Plasmapheresis, Neurology (clinical), medicine.symptom, business, Pleocytosis, 030217 neurology & neurosurgery, medicine.drug
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7
المؤلفون: Takehiro Uda, Yuka Hattori, Nobuhiko Okamoto, Sadami Kimura, Yoko Yoshida, Yasuhiro Suzuki, Naomichi Matsumoto, Kiyohiro Kim, Yukiko Mogami, Shin Okazaki, Hitomi Tsuji, Megumi Nukui, Masataka Fukuoka, Hisashi Kawawaki, Ichiro Kuki, Takeshi Inoue, Hirotomo Saitsu
المصدر: Brain and Development. 39:80-83
مصطلحات موضوعية: Male, 0301 basic medicine, Quinidine, Pediatrics, medicine.medical_specialty, Potassium Channels, medicine.medical_treatment, DNA Mutational Analysis, Nerve Tissue Proteins, Potassium Channels, Sodium-Activated, Pharmacology, Lamotrigine, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, medicine, Humans, Adverse effect, Psychomotor retardation, business.industry, Brain, Infant, Electroencephalography, West Syndrome, General Medicine, medicine.disease, Hypsarrhythmia, Epileptic spasms, 030104 developmental biology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Anticonvulsants, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, 030217 neurology & neurosurgery, Ketogenic diet, medicine.drug
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8
المؤلفون: Saya Koh, Megumi Nukui, Yasushi Iimura, Kiyohiro Kim, Yasuhiro Matsusaka, Noritsugu Kunihiro, Masao Matsuhashi, Takehiro Uda, Shin Okazaki, Masataka Fukuoka, Hiroshi Otsubo, Hisashi Kawawaki, Ichiro Kuki, Takeshi Inoue
المصدر: Clinical Neurophysiology. 129:455-457
مصطلحات موضوعية: business.industry, 05 social sciences, 050105 experimental psychology, Sensory Systems, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Text mining, Neurology, Physiology (medical), medicine, 0501 psychology and cognitive sciences, Neurology (clinical), Disconnection, business, Neuroscience, 030217 neurology & neurosurgery, Motor cortex
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9
المؤلفون: Hiroshi Rinka, Kiyohiro Kim, Jyunichi Ishikawa, Asako Horino, Megumi Nukui, Hisashi Kawawaki, Ichiro Kuki, Yuka Hattori, Shin Okazaki, Masataka Fukuoka, Yoko Yoshida, Hitomi Tsuji
المصدر: Braindevelopment. 39(9)
مصطلحات موضوعية: Bradycardia, Weakness, Pacemaker, Artificial, medicine.medical_treatment, 030204 cardiovascular system & hematology, Myelitis, Transverse, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, medicine, Image Processing, Computer-Assisted, Humans, Cardiopulmonary resuscitation, Respiratory system, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, General Medicine, Magnetic Resonance Imaging, Acute Transverse Myelitis, Anesthesia, Child, Preschool, Pediatrics, Perinatology and Child Health, Medulla oblongata, Plasmapheresis, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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10
المؤلفون: Asako Horino, Yuka Hattori, Megumi Nukui, Kiyohiro Kim, Masataka Fukuoka, Hitomi Tsuji, Hisashi Kawawaki, Ichiro Kuki, Shin Okazaki
المصدر: Brain and Development. 39:456
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Myelitis, Hemorrhage, Myelitis, Transverse, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Humans, Medicine, 030212 general & internal medicine, Child, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, General Medicine, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Pediatric patient, Acute Transverse Myelitis, medicine.anatomical_structure, Spinal Cord, Anesthesia, Pediatrics, Perinatology and Child Health, Plasmapheresis, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery