Showing the latest 461 publications
Publications 271-280 of 461
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Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis
Kulkarni, N., Lloyd, I., Ashworth, J., Biswas, S., Black, G., Clayton-Smith, J., et al.
Clinical Dysmorphology
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Longer-term efficiency and safety of increasing the frequency of whole blood donation (INTERVAL): extension study of a randomised trial of 20 757 blood donors
Kaptoge, S., Di Angelantonio, E., Moore, C., Walker, M., Armitage, J., Ouwehand, W., et al.
The Lancet. Haematology
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Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants
Bury, L., Megy, K., Stephens, J., Grassi, L., Greene, D., Gleadall, N., et al.
Human Mutation
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Creating genetic reports that are understood by nonspecialists: a case study
Recchia, G., Chiappi, A., Chandratillake, G., Raymond, L., Freeman, A.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
Spencer, S., Köstel Bal, S., Egner, W., Lango Allen, H., Raza, S., Ma, C., et al.
The Journal of Experimental Medicine
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IBD BioResource: an open-access platform of 25 000 patients to accelerate research in Crohn's and Colitis
Parkes, M.
Gut
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Molecular genetic framework underlying pulmonary arterial hypertension
Southgate, L., Machado, R., Gräf, S., Morrell, N.
Nature Reviews. Cardiology
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Predicting the Occurrence of Variants in RAG1 and RAG2
Lawless, D., Lango Allen, H., Thaventhiran, J., Hodel, F., Anwar, R., et al.
Journal of Clinical Immunology
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The adjuvant GLA-SE promotes human Tfh cell expansion and emergence of public TCRβ clonotypes
Hill, D., Pierson, W., Bolland, D., Mkindi, C., Carr, E., Wang, J., et al.
The Journal of Experimental Medicine
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Impairments in reinforcement learning do not explain enhanced habit formation in cocaine use disorder
Lim, T., Cardinal, R., Savulich, G., Jones, P., Moustafa, A., Robbins, T., et al.
Psychopharmacology