Showing the latest 436 publications
Publications 381-390 of 436
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Mencacci, N., Kamsteeg, E., Nakashima, K., R'Bibo, L., Lynch, D., Balint, B., et al.
American Journal of Human Genetics
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The cellular composition of the human immune system is shaped by age and cohabitation
Carr, E., Dooley, J., Garcia-Perez, J., Lagou, V., Lee, J., Wouters, C., et al.
Nature Immunology
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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Singh, T., Kurki, M., Curtis, D., Purcell, S., Crooks, L., McRae, J., et al.
Nature Neuroscience
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Integrated genome-scale analysis of the transcriptional regulatory landscape in a blood stem/progenitor cell model
Wilson, N., Schoenfelder, S., Hannah, R., Sánchez Castillo, M., Schütte, J., Ladopoulos, V., et al.
Blood
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Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture
Stritt, S., Nurden, P., Favier, R., Favier, M., Ferioli, S., Gotru, S., et al.
Nature Communications
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Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
Greene, D., Richardson, S., Turro, E.
American Journal of Human Genetics
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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Turro, E., Greene, D., Wijgaerts, A., Thys, C., Lentaigne, C., Bariana, T., et al.
Science Translational Medicine
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Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G., et al.
Investigative Ophthalmology & Visual Science
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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
Ba-Abbad, R., Arno, G., Carss, K., Stirrups, K., Penkett, C., Moore, A., et al.
Ophthalmology
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Further studies of the down-regulation by Factor I of the C3b feedback cycle using endotoxin as a soluble activator and red cells as a source of CR1 on sera of different complotype
Lachmann, P., Lay, E., Seilly, D., Buchberger, A., Schwaeble, W., Khadake, J.
Clinical and Experimental Immunology