المؤلفون: Víctor Raggio, Nicolas Dell’Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim, Jeong-Sun Seo, Martin Graña, Hugo Naya, Lucia Spangenberg

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Medical genomics, Bioinformatics, Neurology, Whole genome sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/08b04bba944b49f68cb837b2d586bf94

المؤلفون: Sang-Yoon Shin, Camila Simoes, Lucía Spangenberg, Alejandra Tapié, Gabriel González, Víctor Raggio, Margarita Halty, Gonzalo Greif, Hugo Naya, Changhoon Kim, Jong-Yeon Shin, Nicolás Dell’Oca, Virgina Gonzalez, Estefania Garrone, Martín Graña, María Laura Rovella, Conrado Medici, Jeong-Sun Seo, Gonzalo Costa, Soledad Rodríguez

المصدر: Human Genomics
REDI
Institut Pasteur de Montevideo
instacron:Institut Pasteur de Montevideo
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Heart Defects, Congenital, genomica, Bioinformatics, Arterial Occlusive Diseases, Cell Cycle Proteins, Disease, QH426-470, variantes estructurales, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Ciencias Naturales y Exactas, Drug Discovery, Genetics, Humans, Medicine, Child, Frameshift Mutation, Molecular Biology, Exome sequencing, 030304 developmental biology, Whole genome sequencing, 0303 health sciences, Whole Genome Sequencing, business.industry, Homozygote, Brachydactyly, Grange syndrome, Arteries, medicine.disease, Pedigree, Neurology, Ciencias de la Computación e Información, Molecular Medicine, Female, Primary Research, business, Medical genomics, Ciencias de la Información y Bioinformática, 030217 neurology & neurosurgery, Transcription Factors, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c632bb971b3d35bf844d71d6c764c97
https://doi.org/10.1186/s40246-021-00328-1

المؤلفون: Conrado Medici, Gabriel Gonzalez, Alfredo Cerisola, Cristina Scavone

المصدر: Pediatric Neurology. 45:125-128

مصطلحات موضوعية: Male, Electroencephalography, Guillain-Barre Syndrome, Quadriplegia, Cerebrospinal fluid, Developmental Neuroscience, Paralysis, Humans, Medicine, In patient, Child, Tetraplegia, medicine.diagnostic_test, Guillain-Barre syndrome, business.industry, Infant, Polyradiculoneuropathy, medicine.disease, nervous system diseases, Neurology, Child, Preschool, Anesthesia, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Locked-in syndrome, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008cfc2bbcef8a58a9047f81a1bdbf23
https://doi.org/10.1016/j.pediatrneurol.2011.03.005

المؤلفون: Pedro Schestatsky, Gonzalo Barraza, Jordi Casanova-Molla, Carlos David Castillo, Josep Valls-Solé, Conrado Medici, Merche Morales

المصدر: PainReferences. 154(10)

مصطلحات موضوعية: Adult, Male, Pain Threshold, medicine.medical_specialty, Hot Temperature, Visual analogue scale, media_common.quotation_subject, Stimulus (physiology), Audiology, Young Adult, Forearm, Perception, Sensation, Threshold of pain, medicine, Humans, Thermosensing, media_common, Aged, Pain Measurement, Neurophysiology, Middle Aged, Erythromelalgia, Cold Temperature, Anesthesiology and Pain Medicine, medicine.anatomical_structure, Neurology, Neuropathic pain, Female, Neurology (clinical), Psychology, Social psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9460e026c5642cdf64a6753e8be503a
https://pubmed.ncbi.nlm.nih.gov/23806653

المؤلفون: Aída Lemes, Gabriel Gonzalez, Virginia Pedemonte, Conrado Medici, Claudio Varacchi, Nenad Blau, Alfredo Cerisola

المصدر: Journal of child neurology. 28(11)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Phenylalanine hydroxylase, biology, Phenylalanine, West Syndrome, medicine.disease, Vigabatrin, Hypotonia, White matter, Epilepsy, Endocrinology, medicine.anatomical_structure, Neuroimaging, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Neurology (clinical), medicine.symptom, Psychology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adebeffe23b4281847403836e2319933
https://pubmed.ncbi.nlm.nih.gov/22965559

المؤلفون: Conrado Medici, Gabriel Gonzalez, Alfredo Cerisola, Cristina Scavone

المصدر: Pediatric Neurology. 46:264-265

مصطلحات موضوعية: Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5e0a1d27f61e626ea0919be25c2f6d0f
https://doi.org/10.1016/j.pediatrneurol.2012.02.014

المؤلفون: Juan Arbiza, Ivonne Rubio, S. Frabacille, C. Crapucceti, Martín Masner, A. Matiauda, M.J. Sarachaga, Conrado Medici

المصدر: Paediatric Respiratory Reviews. 11:S86

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, medicine.medical_specialty, Human metapneumovirus, biology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, business, biology.organism_classification

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e9a6f025739b07f617c7be64b0fad3b7
https://doi.org/10.1016/s1526-0542(10)70101-9