Zobrazeno 1 - 10
of 124
pro vyhledávání: '"A. Fernandez-Marmiesse"'
Publikováno v:
Neurología (English Edition), Vol 35, Iss 7, Pp 510-512 (2020)
Externí odkaz:
https://doaj.org/article/9cecc277052e47fca4002111fd81ee11
Autor:
Roca, Iria, González-Castro, Lorena, Maynou, Joan, Palacios, Lourdes, Fernández, Helena, Couce, Mª Luz, Fernández-Marmiesse, Ana
Publikováno v:
In Genomics March 2020 112(2):1245-1256
Autor:
Fernández-Marmiesse, Ana, Sánchez-Iglesias, Sofía, Darling, Alejandra, O'Callaghan, María M., Tonda, Raúl, Jou, Cristina, Araújo-Vilar, David
Publikováno v:
In Seizure: European Journal of Epilepsy October 2019 71:161-165
Autor:
Roca, Iria, González-Castro, Lorena, Fernández, Helena, Couce, Mª Luz, Fernández-Marmiesse, Ana
Publikováno v:
In Mutation Research-Reviews in Mutation Research January-March 2019 779:114-125
Autor:
Couce, M.L., Ramos, F., Bueno, M.A., Díaz, J., Meavilla, S., Bóveda, M.D., Fernández-Marmiesse, A., García-Cazorla, A.
Publikováno v:
In European Journal of Paediatric Neurology November 2015 19(6):652-659
Autor:
Crujeiras, Vanesa, Aldámiz-Echevarría, Luis, Dalmau, Jaime, Vitoria, Isidro, Andrade, Fernando, Roca, Iria, Leis, Rosaura, Fernandez-Marmiesse, Ana, Couce, María L.
Publikováno v:
In Molecular Genetics and Metabolism August 2015 115(4):145-150
Autor:
Couce, María L., Bóveda, M. Dolores, García-Jimémez, Concepción, Balmaseda, Elena, Vives, Inmaculada, Castiñeiras, Daisy E., Fernández-Marmiesse, Ana, Fraga, José M., Mudd, S. Harvey, Corrales, Fernando J.
Publikováno v:
In Molecular Genetics and Metabolism November 2013 110(3):218-221
Autor:
Morey, Marcos, Fernández-Marmiesse, Ana, Castiñeiras, Daisy, Fraga, José M., Couce, María L., Cocho, José A.
Publikováno v:
In Molecular Genetics and Metabolism September-October 2013 110(1-2):3-24
Publikováno v:
Acta Myologica
Myopathies caused by MYH7 gene mutations are clinically and pathologically heterogeneous and, until recently, difficult to diagnose. The availability of NGS panels for hereditary neuromuscular diseases changed our insight regarding their frequency an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d9fed81e172595e3ddfe564f67263099
http://europepmc.org/articles/PMC7315894
http://europepmc.org/articles/PMC7315894
Publikováno v:
Neurología, Vol 35, Iss 7, Pp 510-512 (2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ab1f65cbdbea9032227af1b5cb4106d
https://doi.org/10.1016/j.nrl.2018.10.007
https://doi.org/10.1016/j.nrl.2018.10.007