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Browsing by Author Bayrak-Toydemir, Pinar

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RightsPreviewIssue DateTitleAuthor(s)Type
openAccess1750-1172-6-85-S1.TIFF.jpg22-Dec-20115'UTR mutations of ENG cause Hereditary Hemorrhagic TelangiectasiaDamjanovich, Kristy; Langa, Carmen ; Blanco, Francisco J.  ; McDonald, Jamie; Botella, Luisa María  ; Bernabéu, Carmelo  ; Wooderchak-Donahue, Whitney; Stevenson, David A.; Bayrak-Toydemir, Pinarartículo
closedAccessaccesoRestringido.pdf.jpg5-Sep-2013BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasiaWooderchak-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 ; Morrell, Nicholas W.; Botella, Luisa María  ; Bernabéu, Carmelo  ; Stevenson, David A.; Runo, James R.; Bayrak-Toydemir, Pinarartículo
openAccessJHG_Ruiz-LLorente_2019.pdf.jpg6-Feb-2019Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasiaRuiz-Llorente, Lidia ; McDonald, Jamie; Wooderchak-Donahue, Whitney; Briggs, Eric; Chesnutt, Mark; Bayrak-Toydemir, Pinar; Bernabéu, Carmelo  artículo
closedAccessrestringido.pdf.jpg15-May-2019Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic TelangiectasiaRuiz-Llorente, Lidia ; Chiapparino, Elisa; Plumitallo, Sara; Danesino, Cesare; Bayrak-Toydemir, Pinar; Pagella, Fabio; Manfredi, Guido; Bernabéu, Carmelo  ; Jovine, Luca; Olivieri, Carlaartículo
openAccessmggm_Hodgson_2021.pdf.jpg9-Apr-2021Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in childrenHodgson, Joshua; Ruiz-Llorente, Lidia ; 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  ; Upton, Paul D.artículo