Showing the latest 478 publications
Publications 381-390 of 478
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PIGO deficiency: palmoplantar keratoderma and novel mutations
Morren, M., Jaeken, J., Visser, G., Salles, I., Van Geet, C., et al.
Orphanet Journal of Rare Diseases
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Effects of dopamine D2/D3 receptor antagonism on human planning and spatial working memory
Naef, M., Müller, U., Linssen, A., Clark, L., Robbins, T., Eisenegger, C.
Translational Psychiatry
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Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity
Thomas, D., Clare, S., Sowerby, J., Pardo, M., Juss, J., Goulding, D., et al.
The Journal of Experimental Medicine
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GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome
Danti, F., Galosi, S., Romani, M., Montomoli, M., Carss, K., Raymond, F., et al.
Neurology. Genetics
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Human Cytomegalovirus (HCMV)-Specific CD4+ T Cells Are Polyfunctional and Can Respond to HCMV-Infected Dendritic Cells In Vitro
Jackson, S., Sedikides, G., Mason, G., Okecha, G., Wills, M.
Journal of Virology
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Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Pleines, I., Woods, J., Chappaz, S., Kew, V., Foad, N., Ballester-Beltrán, J., et al.
The Journal of Clinical Investigation
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Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management
Bariana, T., Ouwehand, W., Guerrero, J., Gomez, K.
British Journal of Haematology
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High resolution HLA haplotyping by imputation for a British population bioresource
Neville, M., Lee, W., Humburg, P., Wong, D., Barnardo, M., Karpe, F., et al.
Human Immunology
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Identification and Validation Novel Risk Genes for Type 1 Diabetes – A Meta-Analysis
Yang, P., Chorath, A., Jiang, W.
Med One
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Arno, G., Carss, K., Hull, S., Zihni, C., Robson, A., Fiorentino, A., et al.
American Journal of Human Genetics