Showing the latest 487 publications
Publications 191-200 of 487
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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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Differences in Clinical Features and Comorbid Burden between HLA-Cā06:02 Carrier Groups in >9,000 People with Psoriasis
Douroudis, K., Ramessur, R., Barbosa, I., Baudry, D., Duckworth, M., Angit, C., et al.
The Journal of Investigative Dermatology
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Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila
Agrawal, N., Lawler, K., Davidson, C., Keogh, J., Legg, R., et al.
PLoS biology
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Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases
Ritchie, S., Lambert, S., Arnold, M., Teo, S., Lim, S., Scepanovic, P., et al.
Nature Metabolism
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Thrombomodulin in patients with mild to moderate bleeding tendency
Mehic, D., Tolios, A., Hofer, S., Ay, C., Haslacher, H., Downes, K., et al.
Haemophilia: The Official Journal of the World Federation of Hemophilia
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T lymphocyte senescence is attenuated in Parkinson's disease
Kouli, A., Jensen, M., Papastavrou, V., Scott, K., Kolenda, C., Parker, C., et al.
Journal of Neuroinflammation
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Effects of adiposity on the human plasma proteome: observational and Mendelian randomisation estimates
Goudswaard, L., Bell, J., Hughes, D., Corbin, L., Walter, K., Davey Smith, G., et al.
International Journal of Obesity (2005)
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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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MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases
Ratnaike, T., Greene, D., Wei, W., Sanchis-Juan, A., Schon, K., van den Ameele, J., et al.
Nucleic Acids Research