Showing the latest 487 publications
Publications 371-380 of 487
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Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding
Westbury, S., Canault, M., Greene, D., Bermejo, E., Hanlon, K., Lambert, M., et al.
Blood
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Neonatal and adult recent thymic emigrants produce IL-8 and express complement receptors CR1 and CR2
Pekalski, M., García, A., Ferreira, R., Rainbow, D., Smyth, D., Mashar, M., et al.
JCI insight
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Human blood Tfr cells are indicators of ongoing humoral activity not fully licensed with suppressive function
Fonseca, V., Agua-Doce, A., Maceiras, A., Pierson, W., Ribeiro, F., Romão, V., et al.
Science Immunology
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Genetic variation at the CD28 locus and its impact on expansion of pro-inflammatory CD28 negative T cells in healthy individuals
Liaskou, E., Jeffery, L., Chanouzas, D., Soskic, B., Seldin, M., Harper, L., et al.
Scientific Reports
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Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
Cipriani, V., Silva, R., Arno, G., Pontikos, N., Kalhoro, A., Valeina, S., et al.
Scientific Reports
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The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability
Singh, T., Walters, J., Johnstone, M., Curtis, D., Suvisaari, J., Torniainen, M., et al.
Nature Genetics
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ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
Carecchio, M., Mencacci, N., Iodice, A., Pons, R., Panteghini, C., Zorzi, G., et al.
Parkinsonism & Related Disorders
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Platelet function is modified by common sequence variation in megakaryocyte super enhancers
Petersen, R., Lambourne, J., Javierre, B., Grassi, L., Kreuzhuber, R., Ruklisa, D., et al.
Nature Communications
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The effect of variation in donor platelet function on transfusion outcome: a semirandomized controlled trial
Kelly, A., Garner, S., Foukaneli, T., Godec, T., Herbert, N., Kahan, B., et al.
Blood
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A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases
Greene, D., Richardson, S., Turro, E.
American Journal of Human Genetics