Showing the latest 543 publications
Publications 271-280 of 543
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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Zhu, N., Swietlik, E., Welch, C., Pauciulo, M., Hagen, J., Zhou, X., et al.
Genome Medicine
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The Impact of NOD2 Genetic Variants on the Gut Mycobiota in Crohn's Disease Patients in Remission and in Individuals Without Gastrointestinal Inflammation
Nelson, A., Stewart, C., Kennedy, N., Lodge, J., Tremelling, M., Probert, C., et al.
Journal of Crohn's & Colitis
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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Jurkute, N., Shanmugarajah, P., Hadjivassiliou, M., Higgs, J., Vojcic, M., Horrocks, I., et al.
Investigative Ophthalmology & Visual Science
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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
Chan, M., Hayman, M., Sivapalaratnam, S., Crescente, M., Allan, H., Edin, M., et al.
Haematologica
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[11C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease
van den Ameele, J., Hong, Y., Manavaki, R., Kouli, A., Biggs, H., MacIntyre, Z., et al.
Neurology
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Single-cell multi-omics analysis of the immune response in COVID-19
Stephenson, E., Reynolds, G., Botting, R., Calero-Nieto, F., Morgan, M., Tuong, Z., et al.
Nature Medicine
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Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
Whitworth, J., Casey, R., Smith, P., Giger, O., Martin, J., Clark, G., et al.
European journal of human genetics: EJHG
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Single-dose BNT162b2 vaccine protects against asymptomatic SARS-CoV-2 infection
Jones, N., Rivett, L., Seaman, S., Samworth, R., Warne, B., Workman, C., et al.
eLife
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Comparison of four methods to measure haemoglobin concentrations in whole blood donors (COMPARE): A diagnostic accuracy study
Bell, S., Sweeting, M., Ramond, A., Chung, R., Kaptoge, S., Walker, M., et al.
Transfusion Medicine (Oxford, England)
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Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
Collins, J., Astle, W., Megy, K., Mumford, A., Vuckovic, D.
British Journal of Haematology