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Navegación por Autor McDonald, Jamie
Mostrando resultados 1 a 5 de 5
Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 22-dic-2011 | 5'UTR mutations of ENG cause Hereditary Hemorrhagic Telangiectasia | Damjanovich, Kristy; Langa, Carmen CSIC; Blanco, Francisco J. CSIC ; McDonald, Jamie; Botella, Luisa María CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Wooderchak-Donahue, Whitney; Stevenson, David A.; Bayrak-Toydemir, Pinar | artículo |
closedAccess | | 5-sep-2013 | BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia | Wooderchak-Donahue, Whitney; McDonald, Jamie; O'Fallon, Brendan D.; Upton, Paul D.; Li, Wei; Roman, Beth L.; Young, Sarah; Plant, Parker; Fülöp, Gyula T.; Langa, Carmen CSIC; Morrell, Nicholas W.; Botella, Luisa María CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Stevenson, David A.; Runo, James R.; Bayrak-Toydemir, Pinar | artículo |
openAccess | | 6-feb-2019 | Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia | Ruiz-Llorente, Lidia CSIC ORCID; McDonald, Jamie; Wooderchak-Donahue, Whitney; Briggs, Eric; Chesnutt, Mark; Bayrak-Toydemir, Pinar; Bernabéu, Carmelo CSIC ORCID | artículo |
openAccess | | 9-abr-2021 | Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children | Hodgson, Joshua; Ruiz-Llorente, Lidia CSIC ORCID; McDonald, Jamie; Quarrell, Oliver; Ugonna, Kelechi; Bentham, James; Mason, Rebeca; Martin, Jennifer; Moore, David; Bergstrom, Katie; Bayrak-Toydemir, Pinar; Wooderchak-Donahue, Whitney; Morrell, Nicholas W.; Condliffe, Robin; Bernabéu, Carmelo CSIC ORCID ; Upton, Paul D. | artículo |
openAccess | | 5-nov-2020 | Potential second-hits in hereditary hemorrhagic telangiectasia | Bernabéu, Carmelo CSIC ORCID ; Bayrak-Toydemir, Pinar; McDonald, Jamie; Letarte, Michelle | artículo |