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5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasiaDamjanovich, Kristy ; Langa, Carmen ; Blanco, Francisco J ; McDonald, Jamie ; Botella, Luisa M ; Bernabeu, Carmelo ; Wooderchak-Donahue, Whitney ; Stevenson, David A ; Bayrak-Toydemir, PinarOrphanet journal of rare diseases, 2011-12, Vol.6 (1), p.85-85, Article 85 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)McDonald, Jamie ; Bayrak-Toydemir, Pinar ; DeMille, Desiree ; Wooderchak-Donahue, Whitney ; Whitehead, KevinGenetics in medicine, 2020-07, Vol.22 (7), p.1201-1205 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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Cross-Talk between Mucosal-Associated Invariant T, Natural Killer, and Natural Killer T Cell Populations is Implicated in the Pathogenesis of Placenta Accreta SpectrumEl-Badawy, Omnia ; Abbas, Ahmed M. ; Radwan, Eman ; Makboul, Rania ; Khamis, Areej A. ; Ali, Maha ; Elkabsh, Mai M. ; Bakr, Marwa H. ; Zahran, Asmaa M.Inflammation, 2023-08, Vol.46 (4), p.1192-1208 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasiaKitayama, Kana ; Ishiguro, Tomoya ; Komiyama, Masaki ; Morisaki, Takayuki ; Morisaki, Hiroko ; Minase, Gaku ; Hamanaka, Kohei ; Miyatake, Satoko ; Matsumoto, Naomichi ; Kato, Masaru ; Takahashi, Toru ; Yorifuji, TohruBMC medical genomics, 2021-12, Vol.14 (1), p.288-288, Article 288 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa—three novel pathogenic variantsMutize, Tendaishe T. ; Seedat, Riaz Y. ; Ploos van Amstel, Johannes K. ; Mager, Johannes J. ; Brown, Stephen C. ; Gebremariam, Fekade ; Coetzee, Marius J.Molecular biology reports, 2020-12, Vol.47 (12), p.9967-9972 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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First demonstration of velocity selective recording from the pig vagus using a nerve cuff shows respiration afferentsMetcalfe, B. W. ; Nielsen, T. N. ; Donaldson, N. de N. ; Hunter, A. J. ; Taylor, J. T.Biomedical Engineering Letters (BMEL), 2018, 8(1), , pp.127-136Korea: The Korean Society of Medical and Biological EngineeringTexto completo disponível |