e9be0994640e23040c0206752e30b6c5 New_genetic_drivers_in_hemorrhagic.pdf 32adc36191c63c23491cfc08639ce338d6a7051c New_genetic_drivers_in_hemorrhagic.pdf 43e8c04abf6cb35bce88eb3f568901b95f1a5647b168c6942e20ac752b3e976f New_genetic_drivers_in_hemorrhagic.pdf Title: New genetic drivers in hemorrhagic hereditary telangiectasia Subject: European Journal of Internal Medicine, 119 (2024) 99-108. doi:10.1016/j.ejim.2023.08.024 Keywords: Hereditary hemorrhagic telangiectasia,Rare diseases,Genetics,SMAD6,Hypoxia Author: Pau Cerdà Creator: Elsevier Producer: Acrobat Distiller 8.1.0 (Windows) CreationDate: Wed Dec 27 15:30:16 2023 CET ModDate: Wed Dec 27 16:53:33 2023 CET Tagged: yes UserProperties: no Suspects: no Form: none JavaScript: no Pages: 10 Encrypted: no Page size: 595.276 x 793.701 pts Page rot: 0 File size: 2817029 bytes Optimized: yes PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- 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Destination: mk:H2_8 Item: Title: 3 Results Destination: mk:H1_3 Children: Item: Title: 3.1 Patients’ selection and clinical characteristics Destination: mk:H2_9 Item: Title: 3.2 Identification of new variants in HHT-like families Destination: mk:H2_10 Item: Title: 3.3 SMAD6 is a candidate for HHT pathogenesis Destination: mk:H2_11 Item: Title: 4 Discussion Destination: mk:H1_4 Item: Title: Ethics approval and consent to participate Destination: mk:H1_5 Item: Title: Consent for publication Destination: mk:H1_6 Item: Title: Availability of data and materials Destination: mk:H1_7 Item: Title: Funding Destination: mk:H1_8 Item: Title: CRediT authorship contribution statement Destination: mk:H1_9 Item: Title: Declaration of Competing Interest Destination: mk:HH1_2 Item: Title: Acknowledgements Destination: mk:HH1_3 Item: Title: References Destination: mk:HH2_1 Info: Title: New genetic drivers in hemorrhagic hereditary telangiectasia Author: Pau Cerdà Subject: European Journal of Internal 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European Journal of Internal Medicine, 119 (2024) 99-108. doi:10.1016/j.ejim.2023.08.024 Hereditary hemorrhagic telangiectasia Rare diseases Genetics SMAD6 Hypoxia New genetic drivers in hemorrhagic hereditary telangiectasia Pau Cerdà Sandra D. Castillo Cinthia Aguilera Adriana Iriarte José Luis Rocamora Ane M. Larrinaga Francesc Viñals Mariona Graupera Antoni Riera-Mestre journal European Journal of Internal Medicine © 2023 The Authors. Published by Elsevier B.V. on behalf of European Federation of Internal Medicine. 0953-6205 119 1 January 2024 2024-01-01 99-108 99 108 10.1016/j.ejim.2023.08.024 https://doi.org/10.1016/j.ejim.2023.08.024 2010-04-23 true 10.1016/j.ejim.2023.08.024 elsevier.com sciencedirect.com http://creativecommons.org/licenses/by-nc-nd/4.0/ VoR 7.0 10.1016/j.ejim.2023.08.024 noindex 2010-04-23 true 27th December 2023 sciencedirect.com elsevier.com Elsevier 2023-12-27T15:53:33 2023-12-27T14:30:16 2023-12-27T15:53:33 True 27th December 2023 Acrobat Distiller 8.1.0 (Windows) Hereditary hemorrhagic telangiectasia,Rare diseases,Genetics,SMAD6,Hypoxia uuid:1b499bed-4ce8-4c0c-b682-0d58baae1cbe uuid:b6ed5266-03cb-4855-90c0-636283357f42 Pages: Page: Label: 99 Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 87, 593, 93, 604 Flags: Print Destination: 768 Annotation: Subtype: Link Rect: 94, 593, 101, 604 Flags: Print Destination: 768 Annotation: Subtype: Link Rect: 102, 593, 107, 604 Flags: Print 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