Showing the latest 475 publications
Publications 221-230 of 475
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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
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'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension
Swietlik, E., Prapa, M., Martin, J., Pandya, D., Auckland, K., Morrell, N., et al.
Genes
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Large genome-wide association study identifies three novel risk variants for restless legs syndrome
Didriksen, M., Nawaz, M., Dowsett, J., Bell, S., Erikstrup, C., Pedersen, O., et al.
Communications Biology
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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
Rodger, C., Flex, E., Allison, R., Sanchis-Juan, A., Hasenahuer, M., Cecchetti, S., et al.
American Journal of Human Genetics