Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Andrea Campo-Barasoain"'
Autor:
José D. Santotoribio, Esperanza Lepe-Balsalobre, Irene Alonso-Pérez, Andrea Campo-Barasoain, Hada C. Macher
Publikováno v:
Anales de Pediatría (English Edition), Vol 95, Iss 2, Pp 116-118 (2021)
Externí odkaz:
https://doaj.org/article/a86c519c652549308639447ae61551ce
Autor:
Alba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, Maria Teresa Sanchez-Calvin, Ana Camacho, Eloy Rivas, Andrea Campo-Barasoain, Marcos Madruga, Carlos Ortez, Daniel Natera-de Benito, Andrés Nascimento, Anna Codina, Maria Jose Rodriguez, Pia Gallano, Lidia Gonzalez-Quereda
Publikováno v:
Journal of Medical Genetics. 60:615-619
BackgroundUp to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac34b451d3486843c236f062d89a5c7
https://doi.org/10.1136/jmg-2022-108828
https://doi.org/10.1136/jmg-2022-108828
Autor:
Esperanza Lepe-Balsalobre, Jose D Santotoribio, Irene Alonso-Pérez, Hada C. Macher, Andrea Campo-Barasoain
Publikováno v:
Anales de Pediatría (English Edition), Vol 95, Iss 2, Pp 116-118 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::431ed63ca37af2924025a4e0b9d032b0
http://www.sciencedirect.com/science/article/pii/S2341287921001149
http://www.sciencedirect.com/science/article/pii/S2341287921001149
Autor:
Esperanza Lepe Balsalobre, Irene Alonso Pérez, Jose D Santotoribio, Hada C. Macher, Andrea Campo Barasoain
Publikováno v:
Anales de Pediatría, Vol 95, Iss 2, Pp 116-118 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2323f23da1b0e407739d8abed416524
http://www.sciencedirect.com/science/article/pii/S1695403320302010
http://www.sciencedirect.com/science/article/pii/S1695403320302010
Autor:
José D. Santotoribio, Esperanza Lepe Balsalobre, Irene Alonso Pérez, Andrea Campo Barasoain, Hada C. Macher
Publikováno v:
Anales de Pediatría, Vol 95, Iss 2, Pp 116-118 (2021)
Externí odkaz:
https://doaj.org/article/485d60eb827e4c28860c6ce8d2a72956