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1دورية أكاديمية
المؤلفون: Gonzalez-Quereda, L, Rodriguez, Maria José, Diaz-Manera, Jordi, Alonso-Pérez, Jorge, Gallardo, Eduard, Nascimento, A., Ortez González, Carlos Ignacio, Natera-De Benito, D., Olive, Montse, Gonzalez-Mera, L., de Munain, A.L., Zulaica, Miren, Poza, J.J., Jerico, I., Torne, L., Riera, Pau, Milisenda, José César, Sanchez, Aurora, Garrabou, Gloria, Llano, I., Madruga-Garrido, M., Gallano, Pia, Universitat Autònoma de Barcelona
مصطلحات موضوعية: Congenital myasthenic syndromes, Congenital myopathies, Muscular dystrophies, Neuromuscular diseases, Targeted next-generation sequencing
وصف الملف: application/pdf
العلاقة: Ministerio de EconomÃa y Competitividad PI15/01898; Genes; Vol. 11 Núm. 5 (may 2020), p. 539; https://ddd.uab.cat/record/283719Test; urn:10.3390/genes11050539; urn:oai:ddd.uab.cat:283719; urn:scopus_id:85085384205; urn:articleid:20734425v11n5p539; urn:pmid:32403337; urn:pmc-uid:7288461; urn:pmcid:PMC7288461; urn:oai:pubmedcentral.nih.gov:7288461; urn:oai:egreta.uab.cat:publications/e4c2b77a-4fe3-48b5-a4b4-a66dd780c7cc
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2دورية أكاديمية
المؤلفون: González-Quereda, Lidia, Rodríguez, María José, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, Gallardo, Eduard, Nascimento, Andrés, Ortez, Carlos, Natera-de Benito, Daniel, Olivé, Montse, González-Mera, Laura, López de Munain, Adolfo, Zulaica, Miren, Poza, Juan José, Jericó, Ivonne, Torne, Laura, Riera, Pau, Milisenda, José, Sánchez, Aurora, Garrabou, Gloria, Llano, Isabel, Madruga, Marcos, Gallano, Pia
المساهمون: Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Centro de Investigación Biomédica en Red Enfermedades Raras (España)
مصطلحات موضوعية: Neuromuscular diseases, Congenital myopathies, Muscular dystrophies, Congenital myasthenic syndromes, Targeted next-generation sequencing
العلاقة: Publisher's version; http://doi.org/10.3390/genes11050539Test; Sí; e-issn: 2073-4425; Genes 11(5): 539 (2020); http://hdl.handle.net/10261/235431Test; http://dx.doi.org/10.13039/100008061Test; http://dx.doi.org/10.13039/501100004587Test; http://dx.doi.org/10.13039/501100000780Test
الإتاحة: https://doi.org/10.3390/genes11050539Test
https://doi.org/10.13039/100008061Test
https://doi.org/10.13039/501100004587Test
https://doi.org/10.13039/501100000780Test
http://hdl.handle.net/10261/235431Test