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1دورية أكاديمية
المؤلفون: Yu Abe, Yu Aihara, Wakaba Endo, Hiroshi Hasegawa, Kimiyoshi Ichida, Mitsugu Uematsu, Shigeo Kure
المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100716- (2021)
مصطلحات موضوعية: Molybdenum cofactor deficiency (MoCD), Molybdenum cofactor (Moco), MOCS1, Dietary protein restriction, Sulfocysteine (SSC), Electroencephalogram, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2
المؤلفون: Yu Katata, Saki Uneoka, Naoya Saijyo, Yu Aihara, Takamitsu Miyazoe, Shun Koyamaishi, Yoshitsugu Oikawa, Yuya Ito, Yu Abe, Yurika Numata‐Uematsu, Jun Takayama, Atsuo Kikuchi, Gen Tamiya, Mitsugu Uematsu, Shigeo Kure
المصدر: American Journal of Medical Genetics Part A. 188:1293-1298
مصطلحات موضوعية: Genetics, Genetics (clinical)
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3
المؤلفون: Yu Aihara, Matsuyuki Shirota, Atsuo Kikuchi, Yu Katata, Yu Abe, Tetsuya Niihori, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
المصدر: Journal of human genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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4
المؤلفون: Tatsuro Izumi, Yu Aihara, Shigeo Kure, Atsuo Kikuchi
المصدر: Brain and Development. 43:652-656
مصطلحات موضوعية: medicine.diagnostic_test, biology, business.industry, Germline mosaicism, General Medicine, Electroencephalography, Microcephalus, medicine.disease, biology.organism_classification, 03 medical and health sciences, Epileptic spasms, Exon, 0302 clinical medicine, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Immunology, medicine, Autism, Tonic (music), Neurology (clinical), business, 030217 neurology & neurosurgery, Exome sequencing
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5
المؤلفون: Tadashi Kaname, Wakaba Endo, Atsuo Kikuchi, Kazuhito Satou, Takehiko Inui, Sota Iwafuchi, Yu Aihara, Shigeo Kure
المصدر: Brain and Development. 43:303-307
مصطلحات موضوعية: Mutation, Pediatrics, medicine.medical_specialty, Activities of daily living, business.industry, Core component, Eye contact, General Medicine, Status epilepticus, medicine.disease_cause, medicine.disease, behavioral disciplines and activities, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Autism spectrum disorder, mental disorders, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, business, Developmental regression, 030217 neurology & neurosurgery, Exome sequencing
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6
المؤلفون: Yu, Abe, Yu, Aihara, Wakaba, Endo, Hiroshi, Hasegawa, Kimiyoshi, Ichida, Mitsugu, Uematsu, Shigeo, Kure
المصدر: Molecular Genetics and Metabolism Reports
مصطلحات موضوعية: Electroencephalogram, Molybdenum cofactor (Moco), MOCS1, Dietary protein restriction, Sulfocysteine (SSC), Molybdenum cofactor deficiency (MoCD), Research Paper
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7
المؤلفون: Mayu Fujikawa, Yurika Numata-Uematsu, Takashi Shiihara, Mitsugu Uematsu, Tomoko Kobayashi, Shinji Saitoh, Ayako Hattori, Noriko Togashi, Kei Ohashi, Shigeo Kure, Yu Aihara
المصدر: Epilepsybehavior : EB. 111
مصطلحات موضوعية: Male, Adolescent, Psychological Distress, Vigabatrin, 03 medical and health sciences, Behavioral Neuroscience, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Seizures, Tuberous Sclerosis, Intellectual disability, Medicine, Humans, 030212 general & internal medicine, Family distress, Child, Medical History Taking, Problem Behavior, Intelligence quotient, business.industry, medicine.disease, Checklist, Distress, Neurology, Child, Preschool, Anticonvulsants, Female, Neurology (clinical), Family Relations, business, 030217 neurology & neurosurgery, medicine.drug, Clinical psychology
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8
المؤلفون: Shigeo Kure, Hiroshi Hasegawa, Wakaba Endo, Yu Aihara, Yu Abe, Kimiyoshi Ichida, Mitsugu Uematsu
المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100716-(2021)
مصطلحات موضوعية: medicine.medical_specialty, Molybdenum cofactor (Moco), Urinary system, medicine.medical_treatment, Sulfocysteine (SSC), Urine, chemistry.chemical_compound, Endocrinology, Low-protein diet, Internal medicine, Dietary protein restriction, Genetics, medicine, Missense mutation, lcsh:QH301-705.5, Molecular Biology, Molybdenum cofactor deficiency, lcsh:R5-920, business.industry, MOCS1, Molybdenum cofactor deficiency (MoCD), medicine.disease, Electroencephalogram, lcsh:Biology (General), chemistry, Inborn error of metabolism, Uric acid, lcsh:Medicine (General), Molybdenum cofactor, business
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9
المؤلفون: Yurika Numata-Uematsu, Taro Kitamura, Masaru Takayanagi, Yoshitsugu Oikawa, Yukimune Okubo, Shigeo Kure, Mitsugu Uematsu, Yukitoshi Takahashi, Yu Aihara
المصدر: Journal of Clinical Neuroscience. 39:108-110
مصطلحات موضوعية: Male, Severe headache, Vasodilation, Magnetic resonance angiography, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), medicine, Humans, Child, Brain Diseases, medicine.diagnostic_test, business.industry, Syndrome, General Medicine, medicine.disease, Reversible cerebral vasoconstriction syndrome, Neurology, Methylprednisolone, Vasoconstriction, 030220 oncology & carcinogenesis, Anesthesia, Angiography, Vomiting, Surgery, Neurology (clinical), medicine.symptom, business, Magnetic Resonance Angiography, 030217 neurology & neurosurgery, medicine.drug