Showing the latest 475 publications
Publications 281-290 of 475
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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study
Tan, R., Traylor, M., Megy, K., Duarte, D., Deevi, S., Shamardina, O., et al.
Neurology
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Characterization of a large cohort of patients with unclassified bleeding disorder; clinical features, management of haemostatic challenges and use of global haemostatic assessment with proposed recommendations for diagnosis and treatment
MacDonald, S., Wright, A., Beuche, F., Downes, K., Besser, M., Symington, E., et al.
International Journal of Laboratory Hematology
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Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension
Ulrich, A., Wharton, J., Thayer, T., Swietlik, E., Assad, T., Desai, A., et al.
The European Respiratory Journal
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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension
Hodgson, J., Swietlik, E., Salmon, R., Hadinnapola, C., Nikolic, I., Wharton, J., et al.
American Journal of Respiratory and Critical Care Medicine
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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