Showing the latest 518 publications
Publications 261-270 of 518
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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
Harper, A., Goel, A., Grace, C., Thomson, K., Petersen, S., Xu, X., et al.
Nature Genetics
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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Annear, D., Vandeweyer, G., Elinck, E., Sanchis-Juan, A., French, C., Raymond, L., et al.
Scientific Reports
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Neutrophil specific granule and NETosis defects in gray platelet syndrome
Aarts, C., Downes, K., Hoogendijk, A., Sprenkeler, E., Gazendam, R., Favier, R., et al.
Blood Advances
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A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant
Morange, P., Peiretti, F., Gourhant, L., Proust, C., Soukarieh, O., Pulcrano-Nicolas, A., et al.
PLoS genetics
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A cross-platform approach identifies genetic regulators of human metabolism and health
Lotta, L., Pietzner, M., Stewart, I., Wittemans, L., Li, C., Bonelli, R., et al.
Nature Genetics
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Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension
Swietlik, E., Greene, D., Zhu, N., Megy, K., Cogliano, M., Rajaram, S., et al.
Circulation. Genomic and Precision Medicine
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Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report
Buckland, M., Galloway, J., Fhogartaigh, C., Meredith, L., Provine, N., Bloor, S., et al.
Nature Communications
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H., Bakker, D., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Cif, L., Demailly, D., Lin, J., Barwick, K., Sa, M., Abela, L., et al.
Brain: A Journal of Neurology
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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Hathazi, D., Griffin, H., Jennings, M., Giunta, M., Powell, C., Pearce, S., et al.
The EMBO journal