Showing the latest 518 publications
Publications 181-190 of 518
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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
French, C., Dolling, H., Mégy, K., Sanchis-Juan, A., Kumar, A., Delon, I., et al.
HGG advances
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In Vivo 18F-Flortaucipir PET Does Not Accurately Support the Staging of Progressive Supranuclear Palsy
Malpetti, M., Kaalund, S., Tsvetanov, K., Rittman, T., Briggs, M., Allinson, K., et al.
Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
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Autoimmunity Is a Significant Feature of Idiopathic Pulmonary Arterial Hypertension
Jones, R., De Bie, E., Groves, E., Zalewska, K., Swietlik, E., Treacy, C., et al.
American Journal of Respiratory and Critical Care Medicine
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A pilot study to examine association of BMI with functional class and 6 min walk distance in idiopathic and heritable PAH: Possible association with estrogen metabolism
MacLean, M., Pandya, D., Swietlik, E., Denver, N., Mair, K., Morrell, N., et al.
Pulmonary Circulation
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Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency
de la Morena-Barrio, B., Stephens, J., de la Morena-Barrio, M., Stefanucci, L., Padilla, J., Miñano, A., et al.
Thrombosis and Haemostasis
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Evidence of previous SARS-CoV-2 infection in seronegative patients with long COVID
Krishna, B., Lim, E., Mactavous, L., Lyons, P., Doffinger, R., et al.
EBioMedicine
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Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension
Harbaum, L., Rhodes, C., Wharton, J., Lawrie, A., Karnes, J., Desai, A., et al.
American Journal of Respiratory and Critical Care Medicine
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Different Cytokine Patterns in BMPR2-Mutation-Positive Patients and Patients With Pulmonary Arterial Hypertension Without Mutations and Their Influence on Survival
Schwiening, M., Swietlik, E., Pandya, D., Burling, K., Barker, P., Feng, O., et al.
Chest
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Endothelin-1 is increased in the plasma of patients hospitalised with Covid-19
Abraham, G., Kuc, R., Althage, M., Greasley, P., Ambery, P., Maguire, J., et al.
Journal of Molecular and Cellular Cardiology
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Variability of retinopathy consequent upon novel mutations in LAMA1
Schiff, E., Aychoua, N., Nutan, S., Davagnanam, I., Moore, A., Robson, A., et al.
Ophthalmic Genetics