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Refinado por: assunto: Telangiectasia, Hereditary Hemorrhagic - Genetics remover assunto: eng remover Base de dados/Biblioteca: SpringerLink remover
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5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
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5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

Damjanovich, Kristy ; Langa, Carmen ; Blanco, Francisco J ; McDonald, Jamie ; Botella, Luisa M ; Bernabeu, Carmelo ; Wooderchak-Donahue, Whitney ; Stevenson, David A ; Bayrak-Toydemir, Pinar

Orphanet journal of rare diseases, 2011-12, Vol.6 (1), p.85-85, Article 85 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
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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, Kevin

Genetics in medicine, 2020-07, Vol.22 (7), p.1201-1205 [Periódico revisado por pares]

United States: Elsevier Limited

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3
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
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Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

Kitayama, Kana ; Ishiguro, Tomoya ; Komiyama, Masaki ; Morisaki, Takayuki ; Morisaki, Hiroko ; Minase, Gaku ; Hamanaka, Kohei ; Miyatake, Satoko ; Matsumoto, Naomichi ; Kato, Masaru ; Takahashi, Toru ; Yorifuji, Tohru

BMC medical genomics, 2021-12, Vol.14 (1), p.288-288, Article 288 [Periódico revisado por pares]

England: BioMed Central Ltd

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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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