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1
المؤلفون: Byongmun An, Aya Ogami, Masafumi Morimoto, Yasuko Sawai, Tomohiro Usuku, Tohru Sugimoto, Masayuki Tanaka, Akira Nishimura, Noriko Shin, Koh Hasegawa, Kiyoshi Hirai, Yuriko Sugino
المصدر: Epilepsia. 44:1459-1462
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, Dysostosis, West Syndrome, Adrenocorticotropic hormone, medicine.disease, humanities, Hypsarrhythmia, Surgery, Craniosynostosis, Central nervous system disease, Epilepsy, Neurology, Medicine, Neurology (clinical), Williams syndrome, medicine.symptom, business
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2
المؤلفون: Tomohiro Usuku, Shinsaku Imashuku, Hisaichi Fujii, Ikuyo Ueda, Shinjiro Todo, Gen Kano, Yoshiaki Hirashima, Kikuko Kuriyama, Akira Morimoto, Yasuko Sawai, Tohru Sugimoto, Hitoshi Kanno
المصدر: British Journal of Haematology. 122:1009-1013
مصطلحات موضوعية: Hemolytic anemia, medicine.medical_specialty, education.field_of_study, Anemia, Hematology, Jaundice, Gene mutation, Biology, medicine.disease, Endocrinology, Internal medicine, medicine, Missense mutation, medicine.symptom, Myopathy, Phosphoglycerate kinase 1, education, Rhabdomyolysis
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3
المؤلفون: Yoshihiro Takeuchi, Hiroshi Yoshioka, Masaharu Ochi, Osamu Otabe, Tomohiro Usuku, Masafumi Morimoto, Tohru Sugimoto, Akira Nishimura, Masayuki Tanaka
المصدر: Epilepsia. 44:1245-1249
مصطلحات موضوعية: Genetics, Monosomy, Microcephaly, Pathology, medicine.medical_specialty, Ring chromosome, Chromosome, Karyotype, Biology, medicine.disease, Epilepsy, Neurology, medicine, Ictal, Neurology (clinical), Atonic seizure
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4
المؤلفون: Kenji, Kihara, Yoko, Kawasaki, Hiroyuki, Imanishi, Tomohiro, Usuku, Mio, Nishimura, Takashi, Mito, Satoshi, Takada
المصدر: No to hattatsu = Brain and development. 45(5)
مصطلحات موضوعية: Adult, Male, Leg, Anthropometry, Intellectual Disability, Humans, Reproducibility of Results, Female, Middle Aged, Body Height
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::78e5bc6abd63c1d754f8f1ff68f86fad
https://pubmed.ncbi.nlm.nih.gov/24205688 -
5
المؤلفون: Masafumi, Morimoto, Byongmun, An, Aya, Ogami, Noriko, Shin, Yuriko, Sugino, Yasuko, Sawai, Tomohiro, Usuku, Masayuki, Tanaka, Kiyoshi, Hirai, Akira, Nishimura, Koh, Hasegawa, Tohru, Sugimoto
المصدر: Epilepsia. 44(11)
مصطلحات موضوعية: Male, Williams Syndrome, Infant, Combined Modality Therapy, Diagnosis, Differential, Craniosynostoses, Adrenocorticotropic Hormone, Disease Progression, Humans, Chromosome Deletion, Spasms, Infantile, Chromosomes, Human, Pair 7, Craniotomy, Follow-Up Studies
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6
المؤلفون: Akira, Morimoto, Ikuyo, Ueda, Yoshiaki, Hirashima, Yasuko, Sawai, Tomohiro, Usuku, Gen, Kano, Kikuko, Kuriyama, Shinjiro, Todo, Tohru, Sugimoto, Hitoshi, Kanno, Hisaichi, Fujii, Shinsaku, Imashuku
المصدر: British journal of haematology. 122(6)
مصطلحات موضوعية: Male, Models, Molecular, Phosphoglycerate Kinase, Child, Preschool, Developmental Disabilities, Mutation, Missense, Humans, Anemia, Hemolytic, Congenital, Rhabdomyolysis
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7
المؤلفون: Masafumi, Morimoto, Tomohiro, Usuku, Masayuki, Tanaka, Osamu, Otabe, Akira, Nishimura, Masaharu, Ochi, Yoshihiro, Takeuchi, Hiroshi, Yoshioka, Tohru, Sugimoto
المصدر: Epilepsia. 44(9)
مصطلحات موضوعية: Chromosomes, Human, Pair 14, Male, Adolescent, Karyotyping, Humans, Infant, Electroencephalography, Ring Chromosomes, Epilepsies, Partial