Showing the latest 251 publications
Publications 31-40 of 251
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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
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SARS-CoV-2 evolution during treatment of chronic infection
Kemp, S., Collier, D., Datir, R., Ferreira, I., Gayed, S., Jahun, A., et al.
Nature
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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Annear, D., Vandeweyer, G., Elinck, E., Sanchis-Juan, A., French, C., Raymond, L., et al.
Scientific Reports
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Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension
Swietlik, E., Greene, D., Zhu, N., Megy, K., Cogliano, M., Rajaram, S., et al.
Circulation. Genomic and Precision Medicine
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Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report
Buckland, M., Galloway, J., Fhogartaigh, C., Meredith, L., Provine, N., Bloor, S., et al.
Nature Communications
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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
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Cif, L., Demailly, D., Lin, J., Barwick, K., Sa, M., Abela, L., et al.
Brain: A Journal of Neurology
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'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension
Swietlik, E., Prapa, M., Martin, J., Pandya, D., Auckland, K., Morrell, N., et al.
Genes