Showing the latest 461 publications
Publications 191-200 of 461
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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Jurkute, N., Shanmugarajah, P., Hadjivassiliou, M., Higgs, J., Vojcic, M., Horrocks, I., et al.
Investigative Ophthalmology & Visual Science
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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
Chan, M., Hayman, M., Sivapalaratnam, S., Crescente, M., Allan, H., Edin, M., et al.
Haematologica
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[11C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease
van den Ameele, J., Hong, Y., Manavaki, R., Kouli, A., Biggs, H., MacIntyre, Z., et al.
Neurology
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Single-cell multi-omics analysis of the immune response in COVID-19
Stephenson, E., Reynolds, G., Botting, R., Calero-Nieto, F., Morgan, M., Tuong, Z., et al.
Nature Medicine
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Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
Whitworth, J., Casey, R., Smith, P., Giger, O., Martin, J., Clark, G., et al.
European journal of human genetics: EJHG
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Single-dose BNT162b2 vaccine protects against asymptomatic SARS-CoV-2 infection
Jones, N., Rivett, L., Seaman, S., Samworth, R., Warne, B., Workman, C., et al.
eLife
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Comparison of four methods to measure haemoglobin concentrations in whole blood donors (COMPARE): A diagnostic accuracy study
Bell, S., Sweeting, M., Ramond, A., Chung, R., Kaptoge, S., Walker, M., et al.
Transfusion Medicine (Oxford, England)
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Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
Collins, J., Astle, W., Megy, K., Mumford, A., Vuckovic, D.
British Journal of Haematology
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Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies
Collier, D., De Marco, A., Ferreira, I., Meng, B., Datir, R., Walls, A., et al.
Nature
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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H., Bakker, D., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics