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BMJ Open|June 29, 2022
FutureMS cohort profile: a Scottish multicentre inception cohort study of relapsing-remitting multiple sclerosisPatrick K A Kearns, Sarah J Martin, Jessie Chang, et al.
The Lancet. Neurology|August 29, 2009
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyMaria Kinali, Virginia Arechavala-Gomeza, Lucy Feng, et al.
Cytokine|May 4, 2021
Differential levels of IFNα subtypes in autoimmunity and viral infectionVincent Bondet, Mathieu P Rodero, Céline Posseme, et al.
American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
Radiology|September 10, 2024
Reproducibility and Repeatability of US Shear-Wave and Transient Elastography in Nonalcoholic Fatty Liver DiseaseTheodore T Pierce, Arinc Ozturk, Sarah P Sherlock, et al.
Science Immunology|March 11, 2021
Inflammatory profiles across the spectrum of disease reveal a distinct role for GM-CSF in severe COVID-19Ryan S Thwaites, Ashley Sanchez Sevilla Uruchurtu, Matthew K Siggins, et al.
American Journal of Medical Genetics. Part A|March 29, 2023
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literatureGabriella Gazdagh, David Hunt, Anna Maria Cueto Gonzalez, et al.
The European Respiratory Journal|January 22, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesiaAmelia Shoemark, Bruna Rubbo, Marie Legendre, et al.
The Journal of Experimental Medicine|April 20, 2017
Detection of interferon alpha protein reveals differential levels and cellular sources in diseaseMathieu P Rodero, Jérémie Decalf, Vincent Bondet, et al.
Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
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