Showing the latest 444 publications
Publications 181-190 of 444
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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 B.1.1.7 sensitivity to mRNA vaccine-elicited, convalescent and monoclonal antibodies
Collier, D., De Marco, A., Ferreira, I., Meng, B., Datir, R., Walls, A., et al.
medRxiv: The Preprint Server for Health Sciences
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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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A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis
Bell, S., Rigas, A., Magnusson, M., Ferkingstad, E., Allara, E., Bjornsdottir, G., et al.
Communications Biology
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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
Harper, A., Goel, A., Grace, C., Thomson, K., Petersen, S., Xu, X., et al.
Nature Genetics
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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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Neutrophil specific granule and NETosis defects in gray platelet syndrome
Aarts, C., Downes, K., Hoogendijk, A., Sprenkeler, E., Gazendam, R., Favier, R., et al.
Blood Advances
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A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant
Morange, P., Peiretti, F., Gourhant, L., Proust, C., Soukarieh, O., Pulcrano-Nicolas, A., et al.
PLoS genetics