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Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics
Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics
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Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

Gómez-Acebo, Inés ; Prado, Sara Rodríguez ; De La Mora, Ãngel ; Puente, Roberto Zarrabeitia ; de la Roza Varela, Beatriz ; Dierssen-Sotos, Trinidad ; Llorca, Javier

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-168, Article 168 [Periódico revisado por pares]

London: BioMed Central Ltd

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2
Genotype-Phenotype Correlations in Children with HHT
Genotype-Phenotype Correlations in Children with HHT
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Genotype-Phenotype Correlations in Children with HHT

Kilian, Alexandra ; Latino, Giuseppe A ; White, Andrew J ; Clark, Dewi ; Chakinala, Murali M ; Ratjen, Felix ; McDonald, Jamie ; Whitehead, Kevin ; Gossage, James R ; Lin, Doris ; Henderson, Katharine ; Pollak, Jeffrey ; McWilliams, Justin P ; Kim, Helen ; Lawton, Michael T ; Faughnan, Marie E

Journal of clinical medicine, 2020-08, Vol.9 (9), p.2714 [Periódico revisado por pares]

Switzerland: MDPI AG

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3
Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary
Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary
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Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary

Major, Tamás ; Bereczky, Zsuzsanna ; Gindele, Réka ; Balogh, Gábor ; Rácz, Benedek ; Bora, László ; Kézsmárki, Zsolt ; Brúgós, Boglárka ; Pfliegler, György

Journal of clinical medicine, 2021-08, Vol.10 (17), p.3774 [Periódico revisado por pares]

Basel: MDPI AG

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4
Electronystagmography versus videonystagmography in diagnosis of vertigo
Electronystagmography versus videonystagmography in diagnosis of vertigo
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Electronystagmography versus videonystagmography in diagnosis of vertigo

Pietkiewicz, Piotr ; Pepaś, Renata ; Sułkowski, Wiesław J. ; Zielińska-Bliźniewska, Hanna ; Olszewski, Jurek

International journal of occupational medicine and environmental health, 2012-03, Vol.25 (1), p.59-65 [Periódico revisado por pares]

Heidelberg: SP Versita

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5
Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia
Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia
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Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia

Gaetani, Eleonora ; Peppucci, Elisabetta ; Agostini, Fabiana ; Di Martino, Luigi ; Lucci Cordisco, Emanuela ; Sturiale, Carmelo L ; Puca, Alfredo ; Porfidia, Angelo ; Alexandre, Andrea ; Pedicelli, Alessandro ; Pola, Roberto

Journal of clinical medicine, 2022-05, Vol.11 (10), p.2685 [Periódico revisado por pares]

Switzerland: MDPI AG

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6
Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia
Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia
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Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

Vorselaars, Veronique M M ; Hosman, Anna E ; Westermann, Cornelis J J ; Snijder, Repke J ; Mager, Johannes J ; Goumans, Marie-Jose ; Post, Marco C

International journal of molecular sciences, 2018-10, Vol.19 (10), p.3203 [Periódico revisado por pares]

Switzerland: MDPI

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7
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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8
Case report: Pulmonary arterial hypertension in ENG-related hereditary hemorrhagic telangiectasia
Case report: Pulmonary arterial hypertension in ENG-related hereditary hemorrhagic telangiectasia
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Case report: Pulmonary arterial hypertension in ENG-related hereditary hemorrhagic telangiectasia

Liu, Dong ; Xu, Feiya ; Gao, Qian ; Zhai, Zhenguo

Frontiers in cardiovascular medicine, 2022-11, Vol.9 [Periódico revisado por pares]

Frontiers Media S.A

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9
Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients
Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients
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Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

Best, D Hunter ; Vaughn, Cecily ; McDonald, Jamie ; Damjanovich, Kristy ; Runo, James R ; Chibuk, Jason M ; Bayrak-Toydemir, Pinar

Journal of medical genetics, 2011-05, Vol.48 (5), p.358-360 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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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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