Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Eva Ramos-Luis"'
Autor:
Laura Martínez-Campelo, Raquel Cruz, Alejandro Blanco-Verea, Isabel Moscoso, Eva Ramos-Luis, Ricardo Lage, María Álvarez-Barredo, María Sabater-Molina, Pablo Peñafiel-Verdú, Juan Jiménez-Jáimez, Moisés Rodríguez-Mañero, María Brion
Publikováno v:
PLoS ONE, Vol 17, Iss 3 (2022)
In Brugada syndrome, even within the same family where all affected individuals share the same mutation, phenotypic variation is prominent, with variable penetrance and expressivity, presenting different degrees of involvement. It is difficult to est
Externí odkaz:
https://doaj.org/article/e3f34b8cc315478dac05754c0c68dcda
Autor:
Alejandro Blanco-Verea, Brais Piñeiro, Rocio Gil, Eva Ramos-Luis, María Álvarez-Barredo, Bernardo López-Abel, Beatriz Sobrino, Jorge Amigo, José Ramón González-Juanatey, Ángel Carracedo, María Brion
Publikováno v:
Molecular Diagnosis & Therapy. 27:105-113
The implication of copy number variations in familial heart disease is known, although in-depth knowledge is lacking; hence, more studies are needed to further our understanding. Massively parallel sequencing, thanks to its recent surge in use, is em
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b52f86304bfbdcef57ae34d086255ab
https://doi.org/10.1007/s40291-022-00624-z
https://doi.org/10.1007/s40291-022-00624-z
Autor:
Laura Martínez-Campelo, Raquel Cruz, Alejandro Blanco-Verea, Isabel Moscoso, Eva Ramos-Luis, Ricardo Lage, María Álvarez-Barredo, María Sabater-Molina, Pablo Peñafiel-Verdú, Juan Jiménez-Jáimez, Moisés Rodríguez-Mañero, María Brion
Publikováno v:
PloS one. 17(3)
In Brugada syndrome, even within the same family where all affected individuals share the same mutation, phenotypic variation is prominent, with variable penetrance and expressivity, presenting different degrees of involvement. It is difficult to est
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93e4f97d53fe9335a75a63532faff516
https://pubmed.ncbi.nlm.nih.gov/35231055
https://pubmed.ncbi.nlm.nih.gov/35231055
Autor:
Begoña, Martínez-Cruz, Christine, Harmant, Daniel E, Platt, Wolfgang, Haak, Jeremy, Manry, Eva, Ramos-Luis, David F, Soria-Hernanz, Frédéric, Bauduer, Jasone, Salaberria, Bernard, Oyharçabal, Lluis, Quintana-Murci, David, Comas, Miguel G, Vilar
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Molecular Biology and Evolution
Molecular Biology and Evolution, 2012, 29 (9), pp.2211-2222. ⟨10.1093/molbev/mss091⟩
instname
Molecular Biology and Evolution
Molecular Biology and Evolution, 2012, 29 (9), pp.2211-2222. ⟨10.1093/molbev/mss091⟩
Martínez-Cruz, Begoña et al.
Basque people have received considerable attention from anthropologists, geneticists, and linguists during the last century due to the singularity of their language and to other cultural and biological characterist
Basque people have received considerable attention from anthropologists, geneticists, and linguists during the last century due to the singularity of their language and to other cultural and biological characterist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2e381fa0fff6cf302fe1cbf25968e3a
https://doi.org/10.1093/molbev/mss091
https://doi.org/10.1093/molbev/mss091
Autor:
Maria, Brion, Alejandro, Blanco-Verea, Beatriz, Sobrino, Montserrat, Santori, Rocio, Gil, Eva, Ramos-Luis, Marina, Martinez, Jorge, Amigo, Angel, Carracedo
Publikováno v:
Electrophoresis. 35(21-22)
Inherited arrhythmogenic disorders is a relatively common cause of cardiac sudden death in young people. Diagnosis has been difficult so far due to the genetic heterogeneity of the disease. Next generation sequencing (NGS) is offering a new scenario
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::712381b5055d6e27cbf801d9c8da7317
https://pubmed.ncbi.nlm.nih.gov/24981977
https://pubmed.ncbi.nlm.nih.gov/24981977
Autor:
George B. J., Busby, Francesca, Brisighelli, Paula, Sánchez-Diz, Eva, Ramos-Luis, Conrado, Martinez-Cadenas, Mark G., Thomas, Daniel G., Bradley, Leonor, Gusmão, Bruce, Winney, Walter, Bodmer, Marielle, Vennemann, Valentina, Coia, Francesca, Scarnicci, Sergio, Tofanelli, Giuseppe, Vona, Rafal, Ploski, Carla, Vecchiotti, Tatijana, Zemunik, Igor, Rudan, Sena, Karachanak
Publikováno v:
Proceedings of the Royal Society B: Biological Sciences; 3/ 7/2012, Vol. 279 Issue 1730, p884-892, 9p