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Claire L. Shovlin
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Journal Articles

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

Clinical Trials & Observations
Maria E. Bernabéu-Herrero, Dilipkumar Patel, Adrianna Bielowka, JiaYi Zhu, Kinshuk Jain, Ian S. Mackay, Patricia Chaves Guerrero, Giulia Emanuelli, Luca Jovine, Michela Noseda, Stefan J. Marciniak, Micheala A. Aldred, Claire L. Shovlin
Journal: Blood
Blood (2024) 143 (22): 2314–2331.
https://doi.org/10.1182/blood.2023021777
Published: 2024
Includes: Supplemental data
Journal Articles

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Clinical Trials & Observations
Claire L. Shovlin, Ilenia Simeoni, Kate Downes, Zoe C. Frazer, Karyn Megy, Maria E. Bernabeu-Herrero, Abigail Shurr, Jennifer Brimley, Dilipkumar Patel, Loren Kell, Jonathan Stephens, Isobel G. Turbin, Micheala A. Aldred, Christopher J. Penkett, Willem H. Ouwehand, Luca Jovine, Ernest Turro
Journal: Blood
Blood (2020) 136 (17): 1907–1918.
https://doi.org/10.1182/blood.2019004560
Published: 2020
Includes: Supplemental data