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المؤلفون: Jong Hee Chae, Byung Chan Lim, Moon Woo Seong, Yong Seung Hwang, Ki Joong Kim, Sung Sup Park, Jin Sook Lee, In One Kim, Jung Eun Cheon
المصدر: Brain and Development. 37:223-229
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Pediatrics, DNA Mutational Analysis, Nonsense mutation, Mutation, Missense, Epilepsy, Developmental Neuroscience, Republic of Korea, Humans, Medicine, Missense mutation, Ictal, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Generalized tonic seizures, Retrospective Studies, Adenosine Triphosphatases, business.industry, Brain, Infant, Electroencephalography, General Medicine, medicine.disease, Magnetic Resonance Imaging, Hypsarrhythmia, Hypotonia, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Menkes disease, Neurology (clinical), medicine.symptom, business, Magnetic Resonance Angiography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5b96f6f2e6c1f24e67413103696b23Test
https://doi.org/10.1016/j.braindev.2014.04.012Test -
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المؤلفون: Akio Shibata, Hiroko Kodama, Tsubasa Koda, Tomoko Lee, Kiyomi Matsuo, Mariko Yagi, Akihiro Miwa, Yasuhiro Takeshima, Miwako Nagasaka, Tomoyuki Yokota, Kazumoto Iijima, Noriko Kusunoki, Ichiro Morioka
المصدر: Brain and Development. 37:114-119
مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.medical_treatment, Urine, Gastroenterology, Vanilmandelic Acid, chemistry.chemical_compound, Developmental Neuroscience, Reference Values, Internal medicine, medicine, Humans, Vanillylmandelic acid, Risk factor, Menkes Kinky Hair Syndrome, Chromatography, High Pressure Liquid, Mechanical ventilation, business.industry, Homovanillic acid, Infant, Newborn, Homovanillic Acid, General Medicine, Odds ratio, medicine.disease, Confidence interval, Early Diagnosis, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, Female, Menkes disease, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9df7c0cc38c3363455103f7976269287Test
https://doi.org/10.1016/j.braindev.2014.01.014Test -
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المؤلفون: Rita Christopher, Arun B Taly, Madhu Nagappa, Rose Dawn Bharath, Narayanappa Gayathri, Parayil Sankaran Bindu, Sanjib Sinha, Maya P. Bhatt, Sonam Kothari
المصدر: Brain and Development. 35:398-405
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Nerve Fibers, Myelinated, White matter, Leukoencephalopathy, Epilepsy, Developmental Neuroscience, Seizures, medicine, Humans, Menkes Kinky Hair Syndrome, Cerebral atrophy, Pili torti, medicine.diagnostic_test, business.industry, Brain, Infant, Electroencephalography, Magnetic resonance imaging, General Medicine, medicine.disease, Brain Waves, Magnetic Resonance Imaging, Hypsarrhythmia, Diffusion Magnetic Resonance Imaging, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Menkes disease, Neurology (clinical), medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78e2da66921d68b1cd572c57eb331676Test
https://doi.org/10.1016/j.braindev.2012.07.016Test -
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المؤلفون: Yan-Hong Gu, Tadaaki Kato, Hiroko Kodama
المصدر: Brain and Development. 34:746-749
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Pediatrics, Adolescent, Heart disease, Sudden death, Statistics, Nonparametric, Asian People, Developmental Neuroscience, health services administration, Organometallic Compounds, medicine, Humans, Abnormalities, Multiple, Histidine, Age of Onset, Menkes Kinky Hair Syndrome, Cation Transport Proteins, health care economics and organizations, Retrospective Studies, Adenosine Triphosphatases, biology, business.industry, Incidence (epidemiology), Medical record, Infant, Retrospective cohort study, General Medicine, medicine.disease, biology.organism_classification, Copper-Transporting ATPases, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Microphallus, Menkes disease, Neurology (clinical), Age of onset, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe764713a417a2b808d87b37fe0a0527Test
https://doi.org/10.1016/j.braindev.2012.01.012Test -
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المؤلفون: Shoji Kagami, Masafumi Harada, Etsuo Naito, Miho Sakata, Kenji Mori, Hiromichi Ito
المصدر: Brain and Development. 33:345-348
مصطلحات موضوعية: Male, Electroencephalography, Lateralization of brain function, Temporal lobe, Lesion, Atrophy, Developmental Neuroscience, Seizures, medicine, Humans, Effective diffusion coefficient, Menkes Kinky Hair Syndrome, medicine.diagnostic_test, business.industry, Infant, Magnetic resonance imaging, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, Hypsarrhythmia, Anesthesia, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, Spasms, Infantile
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb058430f50dcd866c2036f796a2c44Test
https://doi.org/10.1016/j.braindev.2010.05.009Test -
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المؤلفون: Chie Fujisawa, Wattanaporn Bhadhprasit, Hiroko Kodama
المصدر: Brain and Development. 33:243-251
مصطلحات موضوعية: Pathology, medicine.medical_specialty, ATP7A, Occipital horn syndrome, Connective tissue, Disease, Hepatolenticular Degeneration, Developmental Neuroscience, Homeostasis, Humans, Medicine, In patient, Child, Menkes Kinky Hair Syndrome, Metal Metabolism, Inborn Errors, business.industry, General Medicine, medicine.disease, Wilson's disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Menkes disease, Neurology (clinical), Nervous System Diseases, business, Copper deficiency, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce49464d1d7f45fe19b274bce7422b6Test
https://doi.org/10.1016/j.braindev.2010.10.021Test -
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المؤلفون: Shigero Watanabe, Ineo Ishitsuka, Hiroshi Ozawa, Katsuaki Shiga, Yan-Hong Gu, Nobuyuki Kikuchi, Hiroko Kodama, Chie Fujisawa
المصدر: Brain and Development. 29:105-108
مصطلحات موضوعية: Male, DNA Mutational Analysis, ATP7A, Exonic splicing enhancer, Alu element, Biology, medicine.disease_cause, Exon, Developmental Neuroscience, Alu Elements, medicine, Humans, Insertion, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Adenosine Triphosphatases, Genetics, Mutation, Infant, Exons, General Medicine, medicine.disease, Molecular biology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, RNA splicing, Menkes disease, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f34d5c511d671044e8a357d8f6e5193Test
https://doi.org/10.1016/j.braindev.2006.05.012Test -
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المؤلفون: Masaki Takayanagi, Hiroshi Ushijima, Hiroko Kodama, Daishi Mochizuki, Kodo Sato, Yan-Hong Gu, Emi Sato, Cheng-Chun Lee, Atsushi Ogawa, Yukishige Yanagawa
المصدر: Brain and Development. 24:715-718
مصطلحات موضوعية: Male, Proband, medicine.medical_specialty, DNA Mutational Analysis, ATP7A, Physiology, Prenatal diagnosis, Biology, medicine.disease_cause, Polymerase Chain Reaction, Central nervous system disease, Developmental Neuroscience, Pregnancy, Prenatal Diagnosis, Internal medicine, medicine, Humans, Amnion, Menkes Kinky Hair Syndrome, Cells, Cultured, Mutation, Fetus, Chorion, General Medicine, Fibroblasts, medicine.disease, Pedigree, Fetal Diseases, Endocrinology, Chorionic Villi Sampling, Pediatrics, Perinatology and Child Health, Amniocentesis, Female, Menkes disease, Neurology (clinical), Menkes' syndrome, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::157d243bf21f825730c456ecb4c3d4bbTest
https://doi.org/10.1016/s0387-7604Test(02)00093-1 -
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المؤلفون: Manabu Iwanaga, Ryuji Tasaki, Muneaki Matsuo, Toshimitsu Takayanagi
المصدر: Brain and Development. 38:781
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Homovanillic acid, General Medicine, Urine, medicine.disease, Infant newborn, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Developmental Neuroscience, chemistry, Internal medicine, Neuroblastoma, Pediatrics, Perinatology and Child Health, Medicine, Menkes disease, Neurology (clinical), Menkes Kinky Hair Syndrome, business, Vanilmandelic Acid, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f55832fca5679a662619b6470dca55eeTest
https://doi.org/10.1016/j.braindev.2016.03.012Test -
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المؤلفون: József Géza Kiss, Klára Buga, László Sztriha, Márta Janáky
المصدر: Brain and Development. 16:224-228
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, genetic structures, Electroencephalography, Single-photon emission computed tomography, Technetium Tc 99m Exametazime, Developmental Neuroscience, Internal medicine, Oximes, Evoked Potentials, Auditory, Brain Stem, medicine, Humans, Menkes Kinky Hair Syndrome, Evoked potential, Tomography, Emission-Computed, Single-Photon, medicine.diagnostic_test, Infant, Organotechnetium Compounds, General Medicine, medicine.disease, Electrophysiology, Cerebral blood flow, Positron emission tomography, Cerebrovascular Circulation, Pediatrics, Perinatology and Child Health, Cardiology, Evoked Potentials, Visual, Menkes disease, Neurology (clinical), Menkes' syndrome, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9942b9125be471d64f3d32dbeb9db4efTest
https://doi.org/10.1016/0387-7604Test(94)90074-4