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المؤلفون: Mohamad Paktinat, Hamid Nemati, Soroor Inaloo, Pegah Katibeh, Kamran Hessami, Ali Hosseini Bereshneh, Mohammad Hassan Darabi, Marzieh Nejabat
المصدر: International Journal of Pediatrics
International Journal of Pediatrics, Vol 2021 (2021)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Article Subject, medicine.diagnostic_test, business.industry, Cousin, Magnetic resonance imaging, Disease, Gene mutation, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, Level of consciousness, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Presentation (obstetrics), business, 030217 neurology & neurosurgery, Familial acute necrotizing encephalopathy, Research Article
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المؤلفون: Jae-Yeon Hwang, Yong-Woo Kim, Yun-Jin Lee, Yu-Jung Park, Ara Ko
المصدر: Medicine. 100(12)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Encephalopathy, Mutation, Missense, Penetrance, Status epilepticus, Asymptomatic, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Asian People, Adrenal Cortex Hormones, Seizures, Medicine, Missense mutation, Humans, 030212 general & internal medicine, Sibling, business.industry, Immunoglobulins, Intravenous, Infant, General Medicine, medicine.disease, White Matter, Leukoencephalitis, Acute Hemorrhagic, Nuclear Pore Complex Proteins, Diffusion Magnetic Resonance Imaging, 030220 oncology & carcinogenesis, Child, Preschool, Anticonvulsants, Female, medicine.symptom, business, Encephalitis, Familial acute necrotizing encephalopathy, Molecular Chaperones
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2084c472cb156d0e010da5e9df42bdfe
https://pubmed.ncbi.nlm.nih.gov/33761695 -
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المؤلفون: Sarah Bailur, Annapurna Srirambhatla, Gayatri R Iyer, Aparna Utage, Qurratulain Hasan, Prashant Utage
المصدر: Journal of child neurology. 35(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Ataxia, Encephalopathy, Mutation, Missense, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic testing, medicine.diagnostic_test, business.industry, Siblings, Brain, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Digenic inheritance, Magnetic Resonance Imaging, Pedigree, Leukoencephalitis, Acute Hemorrhagic, Diarrhea, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Vomiting, Enterovirus, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Familial acute necrotizing encephalopathy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a2399d937ba0bc08251d3e5fcf3d72
https://pubmed.ncbi.nlm.nih.gov/32102593 -
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المؤلفون: Rogelio Simón de las Heras, A. Camacho-Salas, María Soriano-Ramos, María García-Hoyos, Ana Martínez de Aragón, Virginia Navarro-Abia, Noemí Núñez Enamorado
المصدر: Clinical Neurology and Neurosurgery. 174:134-136
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Methylprednisolone, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Child, Glucocorticoids, Acute necrotizing encephalopathy, business.industry, General Medicine, Investment (macroeconomics), Leukoencephalitis, Acute Hemorrhagic, Nuclear Pore Complex Proteins, Prednisone, Steroids, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery, Forecasting, Molecular Chaperones, Familial acute necrotizing encephalopathy
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المؤلفون: Soonhak Kwon, Yun Jeong Lee, Su-Kyeong Hwang, So Mi Lee
المصدر: Brain & Development
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, Mycoplasma pneumoniae, Encephalopathy, Thalamus, medicine.disease_cause, Article, Diagnosis, Differential, 03 medical and health sciences, Lethargy, 0302 clinical medicine, Familial, Fatal Outcome, Developmental Neuroscience, Asian People, Acute necrotizing encephalopathy, medicine, Genetic predisposition, Missense mutation, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Coma, Korea, business.industry, Siblings, Brain, General Medicine, medicine.disease, Leukoencephalitis, Acute Hemorrhagic, Nuclear Pore Complex Proteins, RANBP2, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Familial acute necrotizing encephalopathy, Molecular Chaperones
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المؤلفون: Makiko Saitoh, Naoko Nishimura, Nobusuke Kimura, Masashi Mizuguchi, Tomohiro Kumada, Fumihito Nozaki, Yoshihisa Higuchi, Ai Hoshino
المصدر: Pediatrics International. 58:1215-1218
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mutation, business.industry, Gene mutation, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, RANBP2, Carnitine, Family history, Sibling, business, 030217 neurology & neurosurgery, medicine.drug, Acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
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7دورية أكاديمية
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المؤلفون: Sandeep Jayawant, Derek Neilson, Andrea H. Németh, Waney Squier, Ravindran Visagan, Geetha Anand, Fintan Sheerin, Saleel Chandratre, Shelley Segal
المصدر: Pediatric Infectious Disease Journal. 34:318-320
مصطلحات موضوعية: Adult, Microbiology (medical), Pathology, medicine.medical_specialty, Recurrent acute necrotizing encephalopathy, DNA Mutational Analysis, Encephalopathy, Influenza A Virus, H1N1 Subtype, Influenza, Human, medicine, Humans, Family history, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, RANBP2 Gene, medicine.disease, Magnetic Resonance Imaging, Leukoencephalitis, Acute Hemorrhagic, Nuclear Pore Complex Proteins, Infectious Diseases, Amino Acid Substitution, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Vomiting, Female, medicine.symptom, business, Molecular Chaperones, Familial acute necrotizing encephalopathy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd98375c1810cc5c2397f9987ff0ed8
https://doi.org/10.1097/inf.0000000000000533 -
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المؤلفون: Beatrice Husson, Diana Rodriguez, Lydie Burglen, Pierre Labauge, Ghaidaa Nasser, Laurent Chevret, Christian Denier, Laurent Balu
المصدر: Journal of the Neurological Sciences. 345:236-238
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Pathology, Encephalopathy, Asymptomatic, Central nervous system disease, Obligate carrier, medicine, Humans, Family Health, Coma, business.industry, Multiple sclerosis, Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Leukoencephalitis, Acute Hemorrhagic, Nuclear Pore Complex Proteins, Neurology, Child, Preschool, Mutation, Female, Neurology (clinical), medicine.symptom, business, Asymptomatic carrier, Molecular Chaperones, Familial acute necrotizing encephalopathy
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المؤلفون: Th. Schmitt-Mechelke
المصدر: European Journal of Paediatric Neurology. 13:S114
مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Cancer research, Medicine, Neurology (clinical), General Medicine, RANBP2, business, Steroid responsive, Familial acute necrotizing encephalopathy