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1دورية أكاديمية
المؤلفون: Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
مصطلحات موضوعية: Algorithm, WES/WGS, HPOs, Variant prioritization, Interactome, Hereditary spastic paraplegia, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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2دورية أكاديمية
المؤلفون: Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espinós
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 22, p 16400 (2023)
مصطلحات موضوعية: ataxia, cerebellar atrophy, rare disease, neuroimaging, exome sequencing, gene panel, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/24/22/16400Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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3دورية أكاديمية
المؤلفون: Herminia Argente‐Escrig, Marina Frasquet, Juan Francisco Vázquez‐Costa, Elvira Millet‐Sancho, Inmaculada Pitarch, Miguel Tomás‐Vila, Carmen Espinós, Vincenzo Lupo, Teresa Sevilla
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1809-1816 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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4دورية أكاديمية
المؤلفون: Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: SCN1A, Dravet syndrome, GEFS+, homozygous, autosomal recessive inheritance, Neurology. Diseases of the nervous system, RC346-429
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.784892/fullTest; https://doaj.org/toc/1664-2295Test; https://doaj.org/article/3195abfa2c1744379b4f8e683fa56303Test
الإتاحة: https://doi.org/10.3389/fneur.2021.784892Test
https://doaj.org/article/3195abfa2c1744379b4f8e683fa56303Test -
5دورية أكاديمية
المؤلفون: Alba de Juan Gallach, Marta Alemany Albert, Ana Victoria Marco Hernández, Nuria Boronat González, María Cernada Badía, Miguel Tomás Vila
المصدر: Anales de Pediatría (English Edition), Vol 93, Iss 2, Pp 111-117 (2020)
مصطلحات موضوعية: Citomegalovirus, Infección congénita, Secuelas neurológicas, Hipoacusia, Neuroimagen, Pediatrics, RJ1-570
العلاقة: http://www.sciencedirect.com/science/article/pii/S2341287920301113Test; https://doaj.org/toc/2341-2879Test; https://doaj.org/article/41916f3098044eb99ee170394ee9884fTest
الإتاحة: https://doi.org/10.1016/j.anpede.2019.12.004Test
https://doaj.org/article/41916f3098044eb99ee170394ee9884fTest -
6دورية أكاديمية
المؤلفون: Alba de Juan Gallach, Marta Alemany Albert, Ana Victoria Marco Hernández, Nuria Boronat González, María Cernada Badía, Miguel Tomás Vila
المصدر: Anales de Pediatría, Vol 93, Iss 2, Pp 111-117 (2020)
مصطلحات موضوعية: Cytomegalovirus, Congenital infection, Neurological sequelae, Loss of hearing, Neuroimaging, Pediatrics, RJ1-570
العلاقة: http://www.sciencedirect.com/science/article/pii/S169540332030028XTest; https://doaj.org/toc/1695-4033Test; https://doaj.org/article/ee9b4dda961447b986970e18cf99a0dbTest
الإتاحة: https://doi.org/10.1016/j.anpedi.2019.12.021Test
https://doaj.org/article/ee9b4dda961447b986970e18cf99a0dbTest -
7دورية أكاديمية
المؤلفون: María Molina Corbacho, Fernando Martín Birlanga, Nerea Sarrión Sos, Pablo Gargallo Tatay, Miguel Tomás Vila
المصدر: Anales de Pediatría (English Edition), Vol 90, Iss 3, Pp 188-190 (2019)
مصطلحات موضوعية: Pediatrics, RJ1-570
العلاقة: http://www.sciencedirect.com/science/article/pii/S2341287919300109Test; https://doaj.org/toc/2341-2879Test; https://doaj.org/article/4cce99f83d124fe586047b8b19de7d47Test
الإتاحة: https://doi.org/10.1016/j.anpede.2018.03.013Test
https://doaj.org/article/4cce99f83d124fe586047b8b19de7d47Test -
8دورية أكاديمية
المؤلفون: María Molina Corbacho, Fernando Martín Birlanga, Nerea Sarrión Sos, Pablo Gargallo Tatay, Miguel Tomás Vila
المصدر: Anales de Pediatría, Vol 90, Iss 3, Pp 188-190 (2019)
مصطلحات موضوعية: Pediatrics, RJ1-570
العلاقة: http://www.sciencedirect.com/science/article/pii/S1695403318301528Test; https://doaj.org/toc/1695-4033Test; https://doaj.org/article/d1b8b09d765b42c8a3fc1556ab1f7c76Test
الإتاحة: https://doi.org/10.1016/j.anpedi.2018.03.017Test
https://doaj.org/article/d1b8b09d765b42c8a3fc1556ab1f7c76Test -
9
المؤلفون: Ana Victoria Marco-Hernández, Alfonso Caro-Llopis, Pilar Rubio Sánchez, Juan Carlos Martínez Martínez, Miguel Tomás Vila, Sandra Monfort, Francisco Martínez
المصدر: Journal of Child Neurology. 37:340-350
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::80bfdd1e0b121c947deba31afb05a3e0Test
https://doi.org/10.1177/08830738211072694Test -
10
المؤلفون: Vincenzo Lupo, Juan F. Vázquez-Costa, Carmen Espinós, Miguel Tomás-Vila, Teresa Sevilla, Inmaculada Pitarch, Herminia Argente-Escrig, Elvira Millet-Sancho, Marina Frasquet
المصدر: Annals of Clinical and Translational Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1809-1816 (2021)مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ARYLSULFATASE, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, CHARCOT-MARIE-TOOTH, GUIDELINES, PHENOTYPE, VALIDATION, HEREDITARY NEUROPATHIES, Young Adult, Charcot-Marie-Tooth Disease, Internal medicine, medicine, Humans, Longitudinal Studies, Age of Onset, RC346-429, Child, Prospective cohort study, Referral and Consultation, Gene, Research Articles, Genetic testing, DISEASE FREQUENCY, medicine.diagnostic_test, MUTATIONS, Mediterranean Region, business.industry, General Neuroscience, Disease progression, Peripheral Nervous System Diseases, Inherited Peripheral Neuropathy, NATURAL-HISTORY, Clinical trial, Spain, Child, Preschool, Referral center, Female, Neurology. Diseases of the nervous system, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, business, RC321-571, GENETIC SUBTYPES, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04a679369bfc41ef9a7623dfdb02b9a1Test
https://doi.org/10.1002/acn3.51432Test
النص الكامل