Showing the latest 242 publications
Publications 1-10 of 242
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Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
Johannesen, K., Iqbal, S., Guazzi, M., Mohammadi, N., Pérez-Palma, E., Schaefer, E., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
Jurkute, N., D'Esposito, F., Robson, A., Pitceathly, R., Cordeiro, F., Raymond, F., et al.
Investigative Ophthalmology & Visual Science
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
Smedley, D., Smith, K., Martin, A., Thomas, E., McDonagh, E., et al.
The New England Journal of Medicine
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Comparison of symptom-based versus self-reported diagnostic measures of anxiety and depression disorders in the GLAD and COPING cohorts
Davies, M., Buckman, J., Adey, B., Armour, C., Bradley, J., Curzons, S., et al.
Journal of Anxiety Disorders
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G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1
Downes, K., Zhao, X., Gleadall, N., McKinney, H., Kempster, C., Batista, J., et al.
Blood Advances
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Age and sex-related variability in the presentation of generalized anxiety and depression symptoms
Thompson, K., Hübel, C., Cheesman, R., Adey, B., Armour, C., Davies, M., et al.
Depression and Anxiety
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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
Machado, R., Welch, C., Haimel, M., Bleda, M., Colglazier, E., Coulson, J., et al.
Journal of Medical Genetics
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SARS-CoV-2 B.1.617.2 Delta variant replication and immune evasion
Mlcochova, P., Kemp, S., Dhar, M., Papa, G., Meng, B., Ferreira, I., et al.
Nature
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Risk factors and disease profile of post-vaccination SARS-CoV-2 infection in UK users of the COVID Symptom Study app: a prospective, community-based, nested, case-control study
Antonelli, M., Penfold, R., Merino, J., Sudre, C., Molteni, E., Berry, S., et al.
The Lancet. Infectious Diseases
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SARS-CoV-2 B.1.617 mutations L452 and E484Q are not synergistic for antibody evasion
Ferreira, I., Kemp, S., Datir, R., Saito, A., Meng, B., Rakshit, P., et al.
The Journal of Infectious Diseases