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1دورية أكاديمية
المؤلفون: Ignacio Sfaello, Olivier Baud, Alexis Arzimanoglou, Pierre Gressens
المصدر: Neurobiology of Disease, Vol 20, Iss 3, Pp 837-848 (2005)
مصطلحات موضوعية: Neuroprotection, Cerebral Palsy, Antiepileptic drugs, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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2
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 -
3
المؤلفون: Glenda Vergara, Z Sfaello, María Vaudagna, Ignacio Sfaello, Adrián Muñoz, Francisco Pueyrredón, Sebastian Bulacio, Ariel Martínez
المصدر: Methodo. Investigación Aplicada a las Ciencias Biológicas. 3:115-119
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3d7bb00b6b0ba5557731bbd347538e94
https://doi.org/10.22529/me.2018.3(4)04 -
4
المؤلفون: Nancy Medina, Sergio Alejandro Rodríguez-Quiroga, Dolores González Morón, Hernán Amartino, Marcelo Andrés Kauffman, Josefina Pérez Maturo, Ignacio Sfaello, Guillermo Agosta, Eva Maria Serafín, Patricia Vega, Lucia Zavala, Nerina Martínez, Valeria Salinas
المصدر: European Journal of Medical Genetics. 64:104363
مصطلحات موضوعية: Male, WWOX, Adolescent, Genotype, Bioinformatics, DNA sequencing, MECP2, Young Adult, Exome Sequencing, Genetics, Humans, STXBP1, Medicine, Genetic Predisposition to Disease, Genetic Testing, Medical diagnosis, Child, Genetic Association Studies, Genetics (clinical), Exome sequencing, Brain Diseases, Epilepsy, business.industry, Genetic Variation, High-Throughput Nucleotide Sequencing, General Medicine, Phenotype, CHD2, Child, Preschool, Etiology, Female, business
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5
المؤلفون: Eleni Panagiotakaki, Agathe Laurent, Philippe Kahane, Alexis Arzimanoglou, Scania de Schonen, Philippe Ryvlin, Ignacio Sfaello, Edouard Hirsch
المصدر: Epileptic Disorders. 16:456-470
مصطلحات موضوعية: medicine.medical_specialty, Speech perception, Adolescent, genetic structures, media_common.quotation_subject, Emotions, Audiology, Functional Laterality, Temporal lobe, Young Adult, Epilepsy, Cognition, Memory, Intellectual Disability, Perception, medicine, Humans, Prospective Studies, Child, Social Behavior, Episodic memory, media_common, Facial expression, General Medicine, medicine.disease, Facial Expression, Epilepsy, Temporal Lobe, Neurology, Emotional prosody, Epilepsy in children, Child, Preschool, Auditory Perception, Visual Perception, Anticonvulsants, Neurology (clinical), Psychology, Cognitive psychology
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6
المؤلفون: Thierry Dupré, Hélène Ogier de Baulny, Nathalie Seta, Julia Dancourt, Anne Barnier, Christianne le Bizec, Sandrine Vuillaumier-Barrot, Ignacio Sfaello, Geneviève Durand, Stuart E.H. Moore
المصدر: Pediatric research. 59(6)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Ataxia, Adolescent, Protein subunit, Blotting, Western, Molecular Sequence Data, Biology, Mannosyltransferases, Genetic determinism, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Transcription (biology), Intronic Mutation, medicine, Humans, Amino Acid Sequence, Gene, DNA Primers, Genetics, Base Sequence, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Siblings, Exon skipping, Introns, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Female, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c86f38a90a78e2e61f4b3b7bd47599ae
https://pubmed.ncbi.nlm.nih.gov/16641202 -
7
المؤلفون: Philippe Evrard, P. Gressens, Ignacio Sfaello
المصدر: Paediatric Clinical Pharmacology
مصطلحات موضوعية: Brain development, business.industry, Medicine, Pharmacology, business, Drug toxicity
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3a3653e9cbe958b23c09add9828f9a7d
https://doi.org/10.1201/b14101-33 -
8
المؤلفون: Francis Brunelle, Nathalie Boddaert, Laurence Laurier, Marie-Christine Mouren, Anne Philippe, Isabelle Meresse, Yves Samson, Monica Zilbovicius, Laurence Robel, Ignacio Sfaello, Nadia Chabane
المصدر: Annals of neurology. 58(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Audiology, Severity of Illness Index, Functional Laterality, Temporal lobe, mental disorders, Severity of illness, medicine, Humans, Autistic Disorder, Child, Left superior temporal gyrus, medicine.disease, Temporal Lobe, Developmental disorder, nervous system, Neurology, Cerebral blood flow, Temporal Regions, Cerebrovascular Circulation, Child, Preschool, Positron-Emission Tomography, Autism, Female, Neurology (clinical), Psychology, Perfusion, Neuroscience
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9
المؤلفون: Jean-Luc Daire, Isabelle Husson, Ignacio Sfaello, Guy Sebag, Pierre Gressens, Barry E. Kosofsky
المصدر: Developmental neuroscience. 27(2-4)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, N-Methylaspartate, Neurotoxins, Brain damage, Sensitivity and Specificity, White matter, Mice, Developmental Neuroscience, Neuroimaging, medicine, Neonatal brain, Animals, Periventricular leukomalacia, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Pathophysiology, Radiography, Disease Models, Animal, medicine.anatomical_structure, Neurology, Animals, Newborn, Brain Injuries, Brain lesions, Rabbits, medicine.symptom, business, Neuroscience
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10
المؤلفون: Yves Samson, Monica Zilbovicius, Pascal Belin, Ignacio Sfaello, Marion Leboyer, Francis Brunelle, Nathalie Boddaert, Arnaud Coez, Hélène Gervais, Catherine Barthélémy
المصدر: Nature neuroscience. 7(8)
مصطلحات موضوعية: Adult, Auditory Cortex, Male, Brain Mapping, medicine.diagnostic_test, General Neuroscience, Magnetic resonance imaging, Superior temporal sulcus, medicine.disease, behavioral disciplines and activities, Brain mapping, Magnetic Resonance Imaging, Social relation, Social information processing, Radiography, Feature (computer vision), medicine, Auditory Perception, Autism, Humans, Autistic Disorder, Psychology, Functional magnetic resonance imaging, Neuroscience