Showing the latest 475 publications
Publications 331-340 of 475
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Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder
Westbury, S., Downes, K., Burney, C., Lozano, M., Obaji, S., Toh, C., et al.
Blood Advances
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Reduced monocyte and macrophage TNFSF15/TL1A expression is associated with susceptibility to inflammatory bowel disease
Richard, A., Peters, J., Savinykh, N., Lee, J., Hawley, E., Meylan, F., et al.
PLoS genetics
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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
Fiorentino, A., Yu, J., Arno, G., Pontikos, N., Halford, S., Broadgate, S., et al.
Molecular Vision
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TNFR2 ligation in human T regulatory cells enhances IL2-induced cell proliferation through the non-canonical NF-κB pathway
Wang, J., Ferreira, R., Lu, W., Farrow, S., Downes, K., Jermutus, L., et al.
Scientific Reports
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Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
Heremans, J., Garcia-Perez, J., Turro, E., Schlenner, S., Casteels, I., Collin, R., et al.
The Journal of Allergy and Clinical Immunology
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Ito, Y., Carss, K., Duarte, S., Hartley, T., Keren, B., Kurian, M., et al.
American Journal of Human Genetics
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Whitworth, J., Smith, P., Martin, J., West, H., Luchetti, A., Rodger, F., et al.
American Journal of Human Genetics
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Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition
Warrier, V., Grasby, K., Uzefovsky, F., Toro, R., Smith, P., Chakrabarti, B., et al.
Molecular Psychiatry
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Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency
Lawless, D., Geier, C., Farmer, J., Lango Allen, H., Thwaites, D., Atschekzei, F., et al.
The Journal of Allergy and Clinical Immunology
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Abnormalities of age-related T cell senescence in Parkinson's disease
Williams-Gray, C., Wijeyekoon, R., Scott, K., Hayat, S., Barker, R., Jones, J.
Journal of Neuroinflammation