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1دورية أكاديمية
المؤلفون: Andres M. Villa, Nelida S. Garretto, Tomoko Arakaki, Luciana Melamud, Sergio A. Rodríguez Quiroga, Luz Abaroa
المصدر: Arquivos de Neuro-Psiquiatria, Iss ahead, Pp 00-00 (2013)
مصطلحات موضوعية: neuromielite óptica, espasmos tônico, distonia paroxística secundária, neuromyelitis optica, tonic spasms, secondary paroxysmal dystonia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Dolores González-Morón, Sebastián Vishnopolska, Damián Consalvo, Nancy Medina, Marcelo Marti, Marta Córdoba, Cecilia Vazquez-Dusefante, Santiago Claverie, Sergio Alejandro Rodríguez-Quiroga, Patricia Vega, Walter Silva, Silvia Kochen, Marcelo Andrés Kauffman
المصدر: PLoS ONE, Vol 12, Iss 9, p e0185103 (2017)
وصف الملف: electronic resource
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3
المؤلفون: Betiana G Comas, Sergio Alejandro Rodríguez-Quiroga, Luca Marsili, Josefina Perez-Maturo, Walter Silva, Valeria Salinas, Nerina Martínez, Hernán Amartino, Patricia Vega, Clarisa Maxit, Marcelo Andrés Kauffman, Kevin R Duque, Nancy Medina, Lucia Zavala, Ignacio Sfaello, Alberto J. Espay, Damián Consalvo, Andrea Sturchio, Barbara Grimberg, Dolores González-Morón
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:876-884
مصطلحات موضوعية: Genetics, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, Biology, Pathogenicity, DNA sequencing, Germline, Clinical neurology, Gene panel, Exome Sequencing, Humans, Uncertain significance, Genetics (clinical), Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea3a264e8ff7f53b35a965ec3ae51fe7
https://doi.org/10.1002/ajmg.c.31848 -
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المؤلفون: Alfonso Fasano, Sergio Alejandro Rodríguez Quiroga
المصدر: Movement disorders clinical practice. 9(6)
مصطلحات موضوعية: Neurology, Neurology (clinical)
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5
المؤلفون: Sergio Alejandro Rodríguez-Quiroga, Lucia Zavala, J. Perez Maturo, Tomoko Arakaki, Marta Córdoba, Patricia Vega, Nancy Medina, Dolores González-Morón, Julieta Rosales, Nelida Garretto, Marcelo Andrés Kauffman, Valeria Salinas
المصدر: Journal of Human Genetics. 65:895-902
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Genetic heterogeneity, business.industry, Neurogenetics, medicine.disease, Cohort, Epidemiology, Genetics, Spinocerebellar ataxia, medicine, Observational study, Family history, business, Gene, Algorithm, Genetics (clinical)
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6
المؤلفون: Lucia Zavala, Josefina Perez Maturo, Marcela González Cid, Sergio Alejandro Rodríguez Quiroga, Marcelo Andrés Kauffman
المصدر: Movement Disorders Clinical Practice. 7:727-729
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, Mild phenotype, Cerebellar ataxia, business.industry, Ataxia-telangiectasia, medicine, Neurology (clinical), medicine.symptom, medicine.disease, business
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7
المؤلفون: Josefina Perez Maturo, Sergio Alejandro Rodríguez-Quiroga, Dolores González-Morón, Nelida Garretto, Marcelo Andrés Kauffman, Lucia Zavala
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, Etiology, Medicine, Late onset, Chorea, Case Reports, Neurology (clinical), medicine.symptom, business, Supranuclear gaze palsy
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المؤلفون: Dolores González-Morón, Leila Cohen, Analisa Manin, Patricia Vega, Marta Córdoba, Marcelo Andrés Kauffman, Julieta Rosales, Sergio Alejandro Rodríguez-Quiroga, Hernán Amartino, Nancy Medina, Norma Specola
المصدر: Annals of Human Genetics. 84:11-28
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Argentina, Leukoencephalopathy, Young Adult, 03 medical and health sciences, symbols.namesake, Leukoencephalopathies, Genetics, Humans, Medicine, Prospective Studies, Child, CADASIL, Genetics (clinical), Aged, 030304 developmental biology, Sanger sequencing, 0303 health sciences, business.industry, 030305 genetics & heredity, Leukodystrophy, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Genomics, Leukodystrophy, Metachromatic, Middle Aged, Prognosis, medicine.disease, Child, Preschool, Cohort, Etiology, symbols, Female, Adrenoleukodystrophy, Observational study, business, Biomarkers, Follow-Up Studies
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9دورية أكاديمية
المؤلفون: Corina Christie, Sergio A. Rodríguez-Quiroga, Tomoko Arakaki, Roberto D. Rey, Nelida S. Garretto
المصدر: Tremor and Other Hyperkinetic Movements, Vol 4 (2014)
مصطلحات موضوعية: Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: Nerina Martinez, Sergio Alejandro Rodríguez-Quiroga, Nancy Medina, Marcelo Andrés Kauffman, Dolores González Morón, Josefina Perez-Maturo, Julieta Rosales, Valeria Salinas, Patricia Vega, Lucia Zavala
المصدر: Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200020, Published: 10 MAR 2021مصطلحات موضوعية: Medicine (General), Mitochondrial DNA, business.industry, Endocrinology, Diabetes and Metabolism, Mitochondrial disease, Mitochondrial diseases, medicine.disease, Diagnostic tools, Bioinformatics, Medical care, DNA sequencing, Molecular diagnostic, Mtdna mutations, Algorithm, R5-920, Mitochondrial respiratory chain, Pediatrics, Perinatology and Child Health, Cohort, Medicine, business, Genetics (clinical)
وصف الملف: text/html
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2011c5f95487bc5351f596890ba45a09
https://doi.org/10.1590/2326-4594-jiems-2020-0020